Pasquale Martinelli
e-mail: pasquale.martinelli AT unina.it
website: www.unina.it
affiliation: Università di Napoli Federico II
research area(s): Neuroscience
Courses:
- Genetics and Molecular Medicine
- Neurosciences
- Molecular Pathology and Pathophysiology
Professor Pasquale Martinelli was born in Naples on 4th January 1947.
In 1965 he was graduated at military academy Nunziatella in Naples.
He was graduated cum laude at University School of Medicine in Naples in 1972.
From 1974 to 1975 he frequented as voluntary interne the Department of Obstetrics and Gynecology of University of Naples directed by Professor Nicola Vaglio.
In 1976, he obtained the board certification in Obstetrics and Gynecology at University School of Medicine in Naples.
In 1978, he was accepted for a one year training fellowship at Institute of Obstetrics 6 Gynecology of the Queen Charlotte’s Maternity Hospital in London.
In 1980, he became research professor in Obstetrics and Gynecology at University School of Medicine Federico II of Naples.
In 1985, he obtained the national qualification as head physician.
In 1992 He became Assistant Professor of Obstetrics and Gynecology at University School of Medicine Federico II of Naples.
In 2001, he was nominated Head of the Unit of Obstetric and Gynecological Emergency at the University Federico II of Naples.
In 2002 he was nominated director of the Regional Reference Centre of Infectious Diseases and AIDS in Obstetrics and Gynecology.
In 2004, he became Ordinary Professor in Obstetrics & Gynecology
He was President of University School of Midwives “Federico II” of Naples from 2004 to 2010.
In 2005 he became extraordinary professor In Obstetrics & Gynecology.
In 2009 he obtained the chair as ordinary professor in Obstetrics & Gynecology at University of Naples Federico II
He has been president of University School of nurse and midwives “Federico II” of Naples from 2010.
He is author and coauthor of more than 300 scientific articles about prenatal diagnosis and feto-maternal medicine, proving his involvement in clinical and scientific research activities.
He is member of different scientific societies, such as: AGUI (Association of the Italian Universitary Gynaecologists), SIGO (Italian Society of Obstetrics and Gynecology),SIEOG (Italian Society of Ultrasound in Obstetrics and Gynecology),Italian Society of Perinatal Medicine, SIGO Study Group about HIV in Obstetrics and Gynecology, PIN (Perinatal Italian Network), register of Campania Region for prenatal diagnosis and congenital malformations.
He is member of Teaching Tips of different PhDs about obstetrics, gynecology and reproductive science.
He was involved in the following national and international research projects:
- “Factors predisposing to gestosis” (1996)
- “Genetic Susceptibility to obstetrical complications” (TELETHON project n. EC 561/ 1997)
- “Multicenter randomized double-blinded study: Nevirapine to prevent HIV mother to child transmission” (coordinated by ICH, London)
- ECS 2001-2002 “Prevention of Perinatal transmission of HIV”.
- PRIN 2002 - “Isoforms of the thromboxane A2 receptor gene polymorphisms in the metabolic pathway of homocysteine in obstetric complications” (National Coordinator)
- “Implementation and Humanization of cares of HIV Positive Women in Obstetrics and Gynecologiy in the Campania Region”( DGR n. 1273; 5.4.2002).
-PRIN 2004 - “Prothrombotic Marker expression in normal placentas and placentas fromcomplicated pregnancies”(National Coordinator)
- PRIN 2007 : “Thromboembolic recurrences in pregnancy and recurrent obstetric complications congenital and acquired: risk factors.”
He worked as referee for the following international Journals:
2003 - “Ultrasound in Obstetrics and Gynecology.”
2003 - “Human Reproduction”.
2004 -“American Journal Obstetrics and Gynecology” (Man N. E04-1854).
2004 -“European Journal of Obstetrics Gynecology and Biology of eproduction” (Ref. Ms. No. EJOGRB-04-394).
2006 - "Fetal Diagnosis and Therapy" (Ref. Ms. No. 200611004; Ms. No. 200611015).
2006 - Fertility and Sterility. (Ms. Ref. N.: F and S3350)
2009 - European Journal of Obstetrics & Gynecology and Reproductive Biology ( EJOGRB-08-4389R1).
2009 - The Journal of Obstetrics and Gynaecology Research-(JOGR-2009-0181).
2009 - Haemathologica (HAEMATOL/2009/014373).
2010 - The Journal of Obstetrics and Gynaecology Research (JOGR-2010-0028).
2010 - The Journal of Obstetrics and Gynaecology Research (ID JOGR-2010-0782).
2010 - Clinical Genetics Manuscript (CGE-00544-2010).
2010 - Journal of Endocrinological Investigation (JEI-00170-2010).
2011 - American Journal of Medical Genetics: Part A.(Manuscript ID 11-0541).
2011 - Blood (MS # BLOOD/2011/369264).
2011 - Journal of Acquired Immune Deficiency Syndrome-Epidemiology Section (Ref.: JAIDS Ms. No. QAIB3392).
2011 - Ultrasound in Obstetrics and Gynecology (UOG-2011-0538).
2011 - Journal of Obstetrics and Gynaecology Research (ID JOGR-2011-0912)
He took part to many national and international congresses.
In 1965 he was graduated at military academy Nunziatella in Naples.
He was graduated cum laude at University School of Medicine in Naples in 1972.
From 1974 to 1975 he frequented as voluntary interne the Department of Obstetrics and Gynecology of University of Naples directed by Professor Nicola Vaglio.
In 1976, he obtained the board certification in Obstetrics and Gynecology at University School of Medicine in Naples.
In 1978, he was accepted for a one year training fellowship at Institute of Obstetrics 6 Gynecology of the Queen Charlotte’s Maternity Hospital in London.
In 1980, he became research professor in Obstetrics and Gynecology at University School of Medicine Federico II of Naples.
In 1985, he obtained the national qualification as head physician.
In 1992 He became Assistant Professor of Obstetrics and Gynecology at University School of Medicine Federico II of Naples.
In 2001, he was nominated Head of the Unit of Obstetric and Gynecological Emergency at the University Federico II of Naples.
In 2002 he was nominated director of the Regional Reference Centre of Infectious Diseases and AIDS in Obstetrics and Gynecology.
In 2004, he became Ordinary Professor in Obstetrics & Gynecology
He was President of University School of Midwives “Federico II” of Naples from 2004 to 2010.
In 2005 he became extraordinary professor In Obstetrics & Gynecology.
In 2009 he obtained the chair as ordinary professor in Obstetrics & Gynecology at University of Naples Federico II
He has been president of University School of nurse and midwives “Federico II” of Naples from 2010.
He is author and coauthor of more than 300 scientific articles about prenatal diagnosis and feto-maternal medicine, proving his involvement in clinical and scientific research activities.
He is member of different scientific societies, such as: AGUI (Association of the Italian Universitary Gynaecologists), SIGO (Italian Society of Obstetrics and Gynecology),SIEOG (Italian Society of Ultrasound in Obstetrics and Gynecology),Italian Society of Perinatal Medicine, SIGO Study Group about HIV in Obstetrics and Gynecology, PIN (Perinatal Italian Network), register of Campania Region for prenatal diagnosis and congenital malformations.
He is member of Teaching Tips of different PhDs about obstetrics, gynecology and reproductive science.
He was involved in the following national and international research projects:
- “Factors predisposing to gestosis” (1996)
- “Genetic Susceptibility to obstetrical complications” (TELETHON project n. EC 561/ 1997)
- “Multicenter randomized double-blinded study: Nevirapine to prevent HIV mother to child transmission” (coordinated by ICH, London)
- ECS 2001-2002 “Prevention of Perinatal transmission of HIV”.
- PRIN 2002 - “Isoforms of the thromboxane A2 receptor gene polymorphisms in the metabolic pathway of homocysteine in obstetric complications” (National Coordinator)
- “Implementation and Humanization of cares of HIV Positive Women in Obstetrics and Gynecologiy in the Campania Region”( DGR n. 1273; 5.4.2002).
-PRIN 2004 - “Prothrombotic Marker expression in normal placentas and placentas fromcomplicated pregnancies”(National Coordinator)
- PRIN 2007 : “Thromboembolic recurrences in pregnancy and recurrent obstetric complications congenital and acquired: risk factors.”
He worked as referee for the following international Journals:
2003 - “Ultrasound in Obstetrics and Gynecology.”
2003 - “Human Reproduction”.
2004 -“American Journal Obstetrics and Gynecology” (Man N. E04-1854).
2004 -“European Journal of Obstetrics Gynecology and Biology of eproduction” (Ref. Ms. No. EJOGRB-04-394).
2006 - "Fetal Diagnosis and Therapy" (Ref. Ms. No. 200611004; Ms. No. 200611015).
2006 - Fertility and Sterility. (Ms. Ref. N.: F and S3350)
2009 - European Journal of Obstetrics & Gynecology and Reproductive Biology ( EJOGRB-08-4389R1).
2009 - The Journal of Obstetrics and Gynaecology Research-(JOGR-2009-0181).
2009 - Haemathologica (HAEMATOL/2009/014373).
2010 - The Journal of Obstetrics and Gynaecology Research (JOGR-2010-0028).
2010 - The Journal of Obstetrics and Gynaecology Research (ID JOGR-2010-0782).
2010 - Clinical Genetics Manuscript (CGE-00544-2010).
2010 - Journal of Endocrinological Investigation (JEI-00170-2010).
2011 - American Journal of Medical Genetics: Part A.(Manuscript ID 11-0541).
2011 - Blood (MS # BLOOD/2011/369264).
2011 - Journal of Acquired Immune Deficiency Syndrome-Epidemiology Section (Ref.: JAIDS Ms. No. QAIB3392).
2011 - Ultrasound in Obstetrics and Gynecology (UOG-2011-0538).
2011 - Journal of Obstetrics and Gynaecology Research (ID JOGR-2011-0912)
He took part to many national and international congresses.
The principal fields of research concern:
1. High risk pregnancies.
We manage several high risk pregnancies every year. We are involved in management of different chronic diseases in pregnancies (above all nephropathies, hypertension, diabetes, immune diseases) and severe obstetrical complications (preeclampsia, intrauterine growth restriction, placenta previa and accreta, premature labour and premature ruptures of membranes). Actually, our research activity in this field concerns primarily:
- molecular studies about pathologic pathways involved in preeclampsia and fetal growth restriction;
- research of ultrasonographic and cardiotocograhic parameters important for management of fetal growth restricted fetuses;
- surgical approaches to placenta accreta;
- epidemiologic studies about different diseases in pregnancy.
2. Prenatal diagnosis
In the last two decades, we performed around 1300 prenatal diagnosis for genetic disorders. With our research activity in this field, we promote a continuous update about screening, counseling and prenatal diagnosis of genetic disorders.
3. Infectious diseases in pregnancy
We are involved in management of infectious diseases in pregnancies, with a particular attention to HIV positive women. In fact, this issue is central in several epidemiologic studies that we published.
1. High risk pregnancies.
We manage several high risk pregnancies every year. We are involved in management of different chronic diseases in pregnancies (above all nephropathies, hypertension, diabetes, immune diseases) and severe obstetrical complications (preeclampsia, intrauterine growth restriction, placenta previa and accreta, premature labour and premature ruptures of membranes). Actually, our research activity in this field concerns primarily:
- molecular studies about pathologic pathways involved in preeclampsia and fetal growth restriction;
- research of ultrasonographic and cardiotocograhic parameters important for management of fetal growth restricted fetuses;
- surgical approaches to placenta accreta;
- epidemiologic studies about different diseases in pregnancy.
2. Prenatal diagnosis
In the last two decades, we performed around 1300 prenatal diagnosis for genetic disorders. With our research activity in this field, we promote a continuous update about screening, counseling and prenatal diagnosis of genetic disorders.
3. Infectious diseases in pregnancy
We are involved in management of infectious diseases in pregnancies, with a particular attention to HIV positive women. In fact, this issue is central in several epidemiologic studies that we published.
23. FLORIDIA M, RAVIZZA M, GUARALDI G, PINNETTI C, MARTINELLI P, TAMBURRINI On Behalf Of The Italian Group On Surveillance On Antiretroviral Treatment In Pregnancy E. Use of Specific Antiretroviral Regimens Among HIV-Infected Women in Italy at Time of Conception: 2001-2011. AIDS Patient Care STDS. 2012 Jun 4. [Epub ahead of print] No abstract available.
24. TISCIA G, COLAIZZO D, FAVUZZI G, VERGURA P, MARTINELLI P, MARGAGLIONE M, GRANDONE E. The M2 haplotype in the ANXA5 gene is an independent risk factor for idiopathic small-for-gestational age newborns Mol Hum Reprod. 2012 Jun 25. [Epub ahead of print
25. LAMBIASE A, AGANGI A, DEL PEZZO M, QUAGLIA F, TESTA A, ROSSANO F, MARTINELLI P, CATANIA MR. In vitro resistance to macrolides and clindamycin by group B streptococcus isolated from pregnant and nonpregnant women. Infect Dis Obstet Gynecol. 2012;2012:913603. Epub 2012 May 20
26. MARUOTTI GM, ANFORA R, SCANNI E, RISPOLI M, MAZZARELLI LL, NAPOLITANO R, MORLANDO M, SARNO L, MILANES GM, SIMIOLI S, MIGLIUCCI A, MARTINELLI P, MASTRONARDI P. Anesthetic management of a parturient with spinal muscular atrophy type II.J Clin Anesth. 2012 Nov;24(7):573-7. doi: 10.1016/j.jclinane.2012.03.001. Epub 2012 Sep 20.
27. MARTINELLI P, SARNO L, MARUOTTI GM, PALUDETTO R.Chorioamnionitis and prematurity: a critical review. J Matern Fetal Neonatal Med. 2012 Oct;25 Suppl 4:29-31.
28. MORLANDO M, SARNO L, NAPOLITANO R, CAPONE A, TESSITORE G, MARUOTTI GM, MARTINELLI P. Placenta accreta: incidence and risk factors in an area with a particularly high rate of cesarean section. Acta Obstet Gynecol Scand. 2013 Jan 24. doi: 10.1111/aogs.12080. [Epub ahead of print]
29. NARDELLI C, IAFFALDANO L, FERRIGNO M, LABRUNA G, MARIA MARUOTTI G, QUAGLIA F, CAPOBIANCO V, DI NOTO R, DEL VECCHIO L, MARTINELLI P, PASTORE L, SACCHETTI L. Characterization and predicted role of the microRNA expression profile in amnion from obese pregnant women. Int J Obes (Lond). 2013 Jul 2. doi: 10.1038/ijo.2013.121. [Epub ahead of print]
30. Tomaiuolo R, Nardiello P, Martinelli P, Sacchetti L, Salvatore F, Castaldo G. Prenatal diagnosis of cystic fibrosis: an experience of 181 cases. Clin Chem Lab Med. 2013 Apr 11:1-6. doi: 10.1515/cclm-2013-0200. [Epub ahead of print]
31. MARUOTTI GM, FRISSO G, CALCAGNO G, FORTUNATO G, CASTALDO G, MARTINELLI P, SACCHETTI L, SALVATORE F. Prenatal diagnosis of inherited diseases: 20 years' experience of an Italian Regional Reference Centre. Clin Chem Lab Med. 2013 Apr 11:1-7. doi: 10.1515/cclm-2013-0194. [Epub ahead of print]
32. IAFFALDANO L, NARDELLI C, RAIA M, MARIOTTI E, FERRIGNO M, QUAGLIA F, LABRUNA G, CAPOBIANCO V, CAPONE A, MARUOTTI GM, PASTORE L, DI NOTO R, MARTINELLI P, SACCHETTI L, DEL VECCHIO L. High Aminopeptidase N/CD13 Levels Characterize Human Amniotic Mesenchymal Stem Cells and Drive Their Increased Adipogenic Potential in Obese Women. Stem Cells Dev. 2013 Apr 23. [Epub ahead of print]
33. MICELI M, FRANCI G, DELL'AVERSANA C, RICCIARDIELLO F, PETRAGLIA F, CARISSIMO A, PERONE L, MARUOTTI GM, SAVARESE M, MARTINELLI P, CANCEMI M, ALTUCCI L MePR: A Novel Human Mesenchymal Progenitor Model with Characteristics of Pluripotency. Stem Cells Dev. 2013 May 24. [Epub ahead of print]
34. MARUOTTI GM, SARNO L, SIMIOLI S, CASTALDO G, MARTINELLI P. Prenatal screening and counseling for genetic disorders. J Matern Fetal Neonatal Med. 2013 Oct;26 Suppl 2:68-71.
35. LEES C, MARLOW N, ARABIN B, BILARDO CM, BREZINKA C, DERKS JB, DUVEKOT J, FRUSCA T, DIEMERT A, FERRAZZI E, GANZEVOORT W, HECHER K, MARTINELLI P, OSTERMAYER E, PAPAGEORGHIOU AT, SCHLEMBACH D, SCHNEIDER KT, THILAGANATHAN B, TODROS T, VAN WASSENAER-LEEMHUIS A, VALCAMONICO A, VISSER GH, WOLF H; TRUFFLE GROUP. Perinatal morbidity and mortality in early-onset fetal growth restriction: cohort outcomes of the trial of randomized umbilical and fetal flow in Europe (TRUFFLE). Ultrasound Obstet Gynecol. 2013 Oct;42(4):400-8.
36. FLORIDIA M, RAVIZZA M, MASUELLI G, GIACOMET V, MARTINELLI P, DEGLI ANTONI A, SPINILLO A, FISCON M, FRANCISCI D, LIUZZI G, PINNETTI C, MARCONI, ANNA MARIA; TAMBURRINI E. Atazanavir and lopinavir profile in pregnant women with HIV: tolerability, activity and pregnancy outcomes in an observational national study. Journal of Antimicrobial Chemotherapy, 2013
37. TUFANO A, COPPOLA A, MARUOTTI GM, MARTINELLI P, CERBONE AM, DI MINNO G. HELLP syndrome and its relation with the antiphospholipid syndrome.
Blood Transfus. 2013 Nov 15:1-5. doi: 10.2450/2013.0154-13
38. SARNO L, MARUOTTI GM, DONADONO V, SACCONE G, MARTINELLI P.
Risk of preeclampsia: comparison between dichorionic and monochorionic twin pregnancies. J Matern Fetal Neonatal Med. 2013 Oct 24.
24. TISCIA G, COLAIZZO D, FAVUZZI G, VERGURA P, MARTINELLI P, MARGAGLIONE M, GRANDONE E. The M2 haplotype in the ANXA5 gene is an independent risk factor for idiopathic small-for-gestational age newborns Mol Hum Reprod. 2012 Jun 25. [Epub ahead of print
25. LAMBIASE A, AGANGI A, DEL PEZZO M, QUAGLIA F, TESTA A, ROSSANO F, MARTINELLI P, CATANIA MR. In vitro resistance to macrolides and clindamycin by group B streptococcus isolated from pregnant and nonpregnant women. Infect Dis Obstet Gynecol. 2012;2012:913603. Epub 2012 May 20
26. MARUOTTI GM, ANFORA R, SCANNI E, RISPOLI M, MAZZARELLI LL, NAPOLITANO R, MORLANDO M, SARNO L, MILANES GM, SIMIOLI S, MIGLIUCCI A, MARTINELLI P, MASTRONARDI P. Anesthetic management of a parturient with spinal muscular atrophy type II.J Clin Anesth. 2012 Nov;24(7):573-7. doi: 10.1016/j.jclinane.2012.03.001. Epub 2012 Sep 20.
27. MARTINELLI P, SARNO L, MARUOTTI GM, PALUDETTO R.Chorioamnionitis and prematurity: a critical review. J Matern Fetal Neonatal Med. 2012 Oct;25 Suppl 4:29-31.
28. MORLANDO M, SARNO L, NAPOLITANO R, CAPONE A, TESSITORE G, MARUOTTI GM, MARTINELLI P. Placenta accreta: incidence and risk factors in an area with a particularly high rate of cesarean section. Acta Obstet Gynecol Scand. 2013 Jan 24. doi: 10.1111/aogs.12080. [Epub ahead of print]
29. NARDELLI C, IAFFALDANO L, FERRIGNO M, LABRUNA G, MARIA MARUOTTI G, QUAGLIA F, CAPOBIANCO V, DI NOTO R, DEL VECCHIO L, MARTINELLI P, PASTORE L, SACCHETTI L. Characterization and predicted role of the microRNA expression profile in amnion from obese pregnant women. Int J Obes (Lond). 2013 Jul 2. doi: 10.1038/ijo.2013.121. [Epub ahead of print]
30. Tomaiuolo R, Nardiello P, Martinelli P, Sacchetti L, Salvatore F, Castaldo G. Prenatal diagnosis of cystic fibrosis: an experience of 181 cases. Clin Chem Lab Med. 2013 Apr 11:1-6. doi: 10.1515/cclm-2013-0200. [Epub ahead of print]
31. MARUOTTI GM, FRISSO G, CALCAGNO G, FORTUNATO G, CASTALDO G, MARTINELLI P, SACCHETTI L, SALVATORE F. Prenatal diagnosis of inherited diseases: 20 years' experience of an Italian Regional Reference Centre. Clin Chem Lab Med. 2013 Apr 11:1-7. doi: 10.1515/cclm-2013-0194. [Epub ahead of print]
32. IAFFALDANO L, NARDELLI C, RAIA M, MARIOTTI E, FERRIGNO M, QUAGLIA F, LABRUNA G, CAPOBIANCO V, CAPONE A, MARUOTTI GM, PASTORE L, DI NOTO R, MARTINELLI P, SACCHETTI L, DEL VECCHIO L. High Aminopeptidase N/CD13 Levels Characterize Human Amniotic Mesenchymal Stem Cells and Drive Their Increased Adipogenic Potential in Obese Women. Stem Cells Dev. 2013 Apr 23. [Epub ahead of print]
33. MICELI M, FRANCI G, DELL'AVERSANA C, RICCIARDIELLO F, PETRAGLIA F, CARISSIMO A, PERONE L, MARUOTTI GM, SAVARESE M, MARTINELLI P, CANCEMI M, ALTUCCI L MePR: A Novel Human Mesenchymal Progenitor Model with Characteristics of Pluripotency. Stem Cells Dev. 2013 May 24. [Epub ahead of print]
34. MARUOTTI GM, SARNO L, SIMIOLI S, CASTALDO G, MARTINELLI P. Prenatal screening and counseling for genetic disorders. J Matern Fetal Neonatal Med. 2013 Oct;26 Suppl 2:68-71.
35. LEES C, MARLOW N, ARABIN B, BILARDO CM, BREZINKA C, DERKS JB, DUVEKOT J, FRUSCA T, DIEMERT A, FERRAZZI E, GANZEVOORT W, HECHER K, MARTINELLI P, OSTERMAYER E, PAPAGEORGHIOU AT, SCHLEMBACH D, SCHNEIDER KT, THILAGANATHAN B, TODROS T, VAN WASSENAER-LEEMHUIS A, VALCAMONICO A, VISSER GH, WOLF H; TRUFFLE GROUP. Perinatal morbidity and mortality in early-onset fetal growth restriction: cohort outcomes of the trial of randomized umbilical and fetal flow in Europe (TRUFFLE). Ultrasound Obstet Gynecol. 2013 Oct;42(4):400-8.
36. FLORIDIA M, RAVIZZA M, MASUELLI G, GIACOMET V, MARTINELLI P, DEGLI ANTONI A, SPINILLO A, FISCON M, FRANCISCI D, LIUZZI G, PINNETTI C, MARCONI, ANNA MARIA; TAMBURRINI E. Atazanavir and lopinavir profile in pregnant women with HIV: tolerability, activity and pregnancy outcomes in an observational national study. Journal of Antimicrobial Chemotherapy, 2013
37. TUFANO A, COPPOLA A, MARUOTTI GM, MARTINELLI P, CERBONE AM, DI MINNO G. HELLP syndrome and its relation with the antiphospholipid syndrome.
Blood Transfus. 2013 Nov 15:1-5. doi: 10.2450/2013.0154-13
38. SARNO L, MARUOTTI GM, DONADONO V, SACCONE G, MARTINELLI P.
Risk of preeclampsia: comparison between dichorionic and monochorionic twin pregnancies. J Matern Fetal Neonatal Med. 2013 Oct 24.
Project Title:
Title: M2 Aplotype and somatic mutations of JAK2V617F in Intrauterine Growth Restriction
OBJECTIVES
Aims of our study will be to investigate, in addition to the most common causes of thrombophilia ( Factor V Leiden and FIIA20210 mutations), the M2 haplotype and
the somatic mutation JAK2 V617F in women with a diagnosis of intrauterine growth restriction (IUGR) and to assess the relationship between the presence of M2 haplotype , the somatic mutation JAK2 V617F and prenatal biophysical parameters
STUDY DESIGN AND METHODOLOGY
Type of the study.
Prospective observational pilot research study.
Patients-Inclusion criteria
Cases will be IUGR fetuses exposed in utero to chronic nutritional insufficiency and hypoxia of different severity between 26 and 34 completed weeks of gestation.
IUGR is defined by the coexistence of abdominal circumference (AC) below the 5th percentile for local standards (or a decrease of AC > 40 percentile from mid trimester to third trimester) and an abnormal uterine Doppler waveform according to local standards (PI > 2 DS).
Controls for IUGR fetuses will be represented, at least in one to one ratio, by the next premature delivered fetus matched for gestational age.
The ideal control group for IUGR fetuses delivered by caesarean section would be fetuses matching in sex and gestational age, and thus mostly preterm, with weight appropriate for gestational age, delivered by caesarean section because of some other indications. The critical points in defining a control group are two: fetuses not exposed to pathological condition and delivered prematurely by caesarean section. For obvious reasons, in pregnancies with no pathological condition there is no reason to deliver the fetus prematurely. Therefore, for ethical reasons, it is not possible to include such “ideal” control group into the study. Alternatively, in order to test the hypothesis that fetuses exposed to chronic hypoxia have different energetic metabolism from appropriate for gestational age fetuses, the control group could be
represented by preterm delivered fetuses due to preterm labour (PTL) and/or pPROM. Two distinct subgroups will be included: PTL fetuses in cephalic presentation that will be delivered vaginally and PTL fetuses in breech presentation that will be delivered by caesarean section. Indeed, the criticism could be that PTL and/or pPROM represent a pathological condition that could alter some investigated parameters. The same applies to those fetuses that will be delivered vaginally.
Nevertheless, from actual knowledge deriving from the literature, we suppose thatthe cardiac enzymes, energetic and catabolic metabolisms investigated by
metabolomics should not be influenced by these two confounding conditions. The same does not apply to stress hormones and this will be taken into account in the analysis process.
After long discussion and consultations with experts, we decided not to include in this control group fetuses delivered at term by caesarean section demanded by
“maternal wish” with weight appropriate for gestational age, because advanced gestational age and consequent maturation of ANS make these fetuses un-comparable
with prematurely delivered fetuses.
Exclusion criteria - study and control group
° Uncertain menstrual period without ultrasound (dating) in the 1st trimester;
° Multiple pregnancies;
° Less than 26 gestational weeks;
° Fetal chromosomal or structural abnormalities;
° Unable to consent;
° Less than 18 year-old mothers.
Aims of our study will be to investigate, in addition to the most common causes of thrombophilia ( Factor V Leiden and FIIA20210 mutations), the M2 haplotype and
the somatic mutation JAK2 V617F in women with a diagnosis of intrauterine growth restriction (IUGR) and to assess the relationship between the presence of M2 haplotype , the somatic mutation JAK2 V617F and prenatal biophysical parameters
STUDY DESIGN AND METHODOLOGY
Type of the study.
Prospective observational pilot research study.
Patients-Inclusion criteria
Cases will be IUGR fetuses exposed in utero to chronic nutritional insufficiency and hypoxia of different severity between 26 and 34 completed weeks of gestation.
IUGR is defined by the coexistence of abdominal circumference (AC) below the 5th percentile for local standards (or a decrease of AC > 40 percentile from mid trimester to third trimester) and an abnormal uterine Doppler waveform according to local standards (PI > 2 DS).
Controls for IUGR fetuses will be represented, at least in one to one ratio, by the next premature delivered fetus matched for gestational age.
The ideal control group for IUGR fetuses delivered by caesarean section would be fetuses matching in sex and gestational age, and thus mostly preterm, with weight appropriate for gestational age, delivered by caesarean section because of some other indications. The critical points in defining a control group are two: fetuses not exposed to pathological condition and delivered prematurely by caesarean section. For obvious reasons, in pregnancies with no pathological condition there is no reason to deliver the fetus prematurely. Therefore, for ethical reasons, it is not possible to include such “ideal” control group into the study. Alternatively, in order to test the hypothesis that fetuses exposed to chronic hypoxia have different energetic metabolism from appropriate for gestational age fetuses, the control group could be
represented by preterm delivered fetuses due to preterm labour (PTL) and/or pPROM. Two distinct subgroups will be included: PTL fetuses in cephalic presentation that will be delivered vaginally and PTL fetuses in breech presentation that will be delivered by caesarean section. Indeed, the criticism could be that PTL and/or pPROM represent a pathological condition that could alter some investigated parameters. The same applies to those fetuses that will be delivered vaginally.
Nevertheless, from actual knowledge deriving from the literature, we suppose thatthe cardiac enzymes, energetic and catabolic metabolisms investigated by
metabolomics should not be influenced by these two confounding conditions. The same does not apply to stress hormones and this will be taken into account in the analysis process.
After long discussion and consultations with experts, we decided not to include in this control group fetuses delivered at term by caesarean section demanded by
“maternal wish” with weight appropriate for gestational age, because advanced gestational age and consequent maturation of ANS make these fetuses un-comparable
with prematurely delivered fetuses.
Exclusion criteria - study and control group
° Uncertain menstrual period without ultrasound (dating) in the 1st trimester;
° Multiple pregnancies;
° Less than 26 gestational weeks;
° Fetal chromosomal or structural abnormalities;
° Unable to consent;
° Less than 18 year-old mothers.