nach oben

Erschienen in:

06.01.2018 | Maternal-Fetal Medicine

The impact of third-trimester genetic counseling

verfasst von: Reuven Sharony, Offra Engel, Shira Litz-Philipsborn, Rivka Sukenik-Halevy, Tal Biron-Shental, Mark I. Evans

Erschienen in: Archives of Gynecology and Obstetrics | Ausgabe 3/2018

Einloggen, um Zugang zu erhalten

Abstract

Objective

To evaluate the impact of genetic counseling (GC) during the third trimester by analyzing changes in pregnancy management and the correlation with postnatal findings.

Methods

This was a retrospective study. Pregnancy course and neonatal follow-up were analyzed according to the reason for referral and implementation of recommendations.

Results

The records of neonates born to 181 women were retrieved. Fifty-two women (group 1—29%) qualified for pregnancy termination under Israeli guidelines and laws, and 129 (group 2—71%) were not at the time they were referred. By another division: 104 women (group 3—57%) followed the physician’s diagnostic recommendations completely after counseling including amniocentesis, fetal MRI, targeted ultrasound scans, fetal echocardiography. Seventy-seven declined amniocentesis (group 4—43%). Additional abnormalities were detected postpartum in all groups without statistically difference: 3/52 (10%) in group 1, 9/129 (7%) in group 2, 6/104 (6%) in group 3, and 6/77 (8%) in group 4).

Conclusion

GC in the third trimester of pregnancy provided the couple with a sharper more focused picture and assisted them to perceive the significance of new, significant fetal findings which attest to the value of the GC.

Nur mit Berechtigung zugänglich

Monk D, Moore GE (2004) Intrauterine growth restriction—genetic causes and consequences. Semin Fetal Neonatal Med 9:371–378CrossRefPubMed

Hendrix N, Berghella V (2008) Non-placental causes of intrauterine growth restriction. Semin Perinatol 32:161–165CrossRefPubMed

Hall JG (2010) Review and hypothesis: syndromes with severe intrauterine growth restriction and very short stature—are they related to the epigenetic mechanism(s) of fetal survival involved in the developmental origins of adult health and disease? Am J Med Genet Part A 152A:512–527CrossRefPubMed

Todros T, Massarenti I, Gaglioti P et al (2004) Fetal short femur length in the second trimester and the outcome of pregnancy. BJOG 111:83–85CrossRefPubMed

Arahori H, Tamura A, Wasada K et al (2007) Sonographic femur length to trunk cross area ratio: prediction of fetal outcome in 30 cases in which micromelia was suspected. J Obstet Gynaecol Res 33:248–253CrossRefPubMed

Papageorghiou AT, Fratelli N, Leslie K et al (2008) Outcome of fetuses with antenatally diagnosed short femur. Ultrasound Obstet Gynecol 31:507–511. https://doi.org/10.1002/uog.5265 CrossRefPubMed

Salomon LJ, Bernard JP (2008) Re: Outcome of fetuses with antenatally diagnosed short femur. Ultrasound Obstet Gynecol 32:719. https://doi.org/10.1002/uog.6237 (author reply 719–720) CrossRefPubMed

Weisz B, David AL, Chitty L et al (2008) Association of isolated short femur in the mid-trimester fetus with perinatal outcome. Ultrasound Obstet Gynecol 31:512–516. https://doi.org/10.1002/uog.5349 CrossRefPubMed

Ventura W, Huaman J, Nazario CE et al (2012) Perinatal outcomes after sonographic detection of isolated short femur in the second trimester. J Clin Ultrasound 40:63–67. https://doi.org/10.1002/jcu.20889 (Epub 2011 Oct 27) CrossRefPubMed

10.

Morales-Roselló J, Peralta Llorens N (2012) Outcome of fetuses with diagnosis of isolated short femur in the second half of pregnancy. ISRN Obstet Gynecol 2012:268218. https://doi.org/10.5402/2012/268218 CrossRefPubMedPubMedCentral

11.

Goetzinger KR, Cahill AG, Macones GA et al (2012) Isolated short femur length on second-trimester sonography: a marker for fetal growth restriction and other adverse perinatal outcomes. J Ultrasound Med 31:19CrossRef

12.

Özlü T, Ozcan T (2013) Fetal isolated short femur in the second trimester and adverse pregnancy outcomes. Prenat Diagn 33:1063–1069. https://doi.org/10.1002/pd.4197 (Epub 2013 Aug 4) CrossRefPubMed

13.

Vermeer N, Bekker MN (2013) Association of isolated short fetal femur with intrauterine growth restriction. Prenat Diagn 33:365–370. https://doi.org/10.1002/pd.4068 (Epub 2013 Feb 25) PubMed

14.

Mathiesen JM, Aksglaede L, Skibsted L, Danish Fetal Medicine Study Group et al (2014) Outcome of fetuses with short femur length detected at second-trimester anomaly scan: a national survey. Ultrasound Obstet Gynecol 44:160–165. https://doi.org/10.1002/uog.13286 (Epub 2014 Jun 27) CrossRefPubMed

15.

Mailath-Pokorny M, Polterauer S, Worda K et al (2015) Isolated short fetal femur length in the second trimester and the association with adverse perinatal outcome: experiences from a Tertiary Referral Center. PLoS One 10:e0128820. https://doi.org/10.1371/journal.pone.0128820 (eCollection 2015) CrossRefPubMedPubMedCentral

16.

Aviram A, Bardin R, Wiznitzer A et al (2015) Midtrimester isolated short femur length as a predictor of adverse pregnancy outcome. Fetal Diagn Ther 38:205–211. https://doi.org/10.1159/000375446 (Epub 2015 Mar 12) CrossRefPubMed

17.

Maymon E, Ghezzi F, Shoham-Vardi I et al (1998) Isolated hydramnios at term gestation and the occurrence of peripartum complications. Eur J Obstet Gynecol Reprod Biol 77:157–161CrossRefPubMed

18.

Aviram A, Salzer L, Hiersch L et al (2015) Association of isolated polyhydramnios at or beyond 34 weeks of gestation and pregnancy outcome. Obstet Gynecol 125:825–832CrossRefPubMed

19.

Boito S, Crovetto F, Ischia B et al (2016) Prenatal ultrasound factors and genetic disorders in pregnancies complicated by polyhydramnios. Prenat Diagn 36:726–730. https://doi.org/10.1002/pd.4851 (Epub 2016 Jun 24) CrossRefPubMed

20.

Encha-Razavi F, Gonzalès M, Laquerrière A et al (2008) A practical approach to the examination of the malformed fetal brain: impact on genetic counselling. Pathology 40:180–187. https://doi.org/10.1080/00313020701813719 CrossRefPubMed

21.

Barkovich AJ, Millen KJ, Dobyns WB (2009) A developmental and genetic classification for midbrain-hindbrain malformations. Brain 132:3199–3230. https://doi.org/10.1093/brain/awp247 CrossRefPubMedPubMedCentral

22.

Mercier S, Dubourg C, Belleguic M et al (2010) GC and “molecular” prenatal diagnosis of holoprosencephaly (HPE). Am J Med Genet Part C (Semin Med Genetics) 154C:191–196CrossRef

23.

Huang J, Wah IYM, Pooh RK et al (2012) Molecular genetics in fetal neurology. Semin Fetal Neonatal Med 17:341–346CrossRefPubMed

24.

Aldinger KA, Doherty D (2016) The genetics of cerebellar malformations. Semin Fetal Neonatal Med 21:321–332CrossRefPubMedPubMedCentral

25.

Woolf AS (2000) A molecular and genetic view of human renal and urinary tract malformations. Kidney Int 58:500–512CrossRefPubMed

26.

Nakanishi K, Yoshikawa N (2003) Genetic disorders of human congenital anomalies of the kidney and urinary tract (CAKUT). Pediatr Int 45:610–616CrossRefPubMed

27.

Deshpandea C, Hennekamb RCM (2008) Genetic syndromes and prenatally detected renal anomalies. Semin Fetal Neonatal Med 13:171–180CrossRef

28.

Khalil A, Pajkrt E, Chitty LS (2011) Early prenatal diagnosis of skeletal anomalies. Prenat Diagn 31:115–124. https://doi.org/10.1002/pd.2676 CrossRefPubMed

29.

Barkova E, Mohan U, Chitayat D et al (2015) Fetal skeletal dysplasias in a tertiary care center: radiology, pathology, and molecular analysis of 112 cases. Clin Genet 87:330–337. https://doi.org/10.1111/cge.12434 CrossRefPubMed

30.

Maymon R, Sharon M, Reish O et al (2003) Fetal abnormalities leading to termination of pregnancy: the experience at the Assaf Harofeh medical center between the years 1999–2000. Harefuah 142:405–409 (in Hebrew) PubMed

31.

Vaknin Z, Ben-Ami I, Reish O et al (2006) Fetal abnormalities leading to termination of singleton pregnancy: the 7-year experience of a single medical center. Prenat Diagn 26:938–943CrossRefPubMed

32.

Dollberg S, Haklai Z, Mimouni FB et al (2005) Birth weight standards in the live-born population in Israel. Isr Med Assoc J 7:311–314PubMed

33.

Fraser FC (1974) Genetic counseling. Am J Human Genet 26:636–661

34.

Biesecker BB (2001) Goals of genetic counseling. Clin Genet 60:323–330CrossRefPubMed

35.

Pryde PG, Odgers AE, Isada NB et al (1992) Determinants of parental decision to abort (DTA) or continue for non-aneuploid ultrasound detected abnormalities. Obstet Gynecol 80:52–56PubMed

36.

Sheiner E, Shoham-Vardi I, Weitzman D, Gohar J, Carmi R (1998) Decisions regarding pregnancy termination among Bedouin couples referred to third level ultrasound clinic. Eur J Obstet Gynecol Reprod Biol 76(2):141–146CrossRefPubMed

37.

Drummond CL, Gomes DM, Senat MV et al (2003) Fetal karyotyping after 28 weeks of gestation for late ultrasound findings in a low risk population. Prenat Diagn 23:1068–1072CrossRefPubMed

38.

Barel O, Vaknin Z, Smorgick N et al (2009) Fetal abnormalities leading to third trimester abortion: nine-year experience from a single medical center. Prenat Diagn 29:223–228. https://doi.org/10.1002/pd.2188 CrossRefPubMed

39.

Kose S, Altunyurt S, Yıldırım N et al (2015) Termination of pregnancy for fetal abnormalities: main arguments and a decision-tree model. Prenat Diagn 35:1128–1136CrossRefPubMed

40.

Hern WM (2014) Fetal diagnostic indications for second and third trimester outpatient pregnancy termination. Prenat Diagn 34:438–444CrossRefPubMedPubMedCentral

41.

Ray CL, Grangé G (2016) Routine third trimester ultrasound in low risk pregnancy confers no benefit!: AGAINST: arguments for a routine third trimester ultrasound: what the meta-analysis does not show! BJOG 123:1122. https://doi.org/10.1111/1471-0528.13939 CrossRefPubMed

42.

Bricker L, Medley N, Pratt JJ (2015) Routine ultrasound in late pregnancy (after 24 weeks’ gestation. Cochrane Database Syst Rev. 29(6):CD001451. https://doi.org/10.1002/14651858.cd001451.pub4

43.

Evans MI, Wapner RJ, Berkowitz RL (2016) Non invasive prenatal screening or advanced diagnostic testing: caveat emptor. Am J Obstet Gynecol 215:298–305CrossRefPubMed

44.

Safonova I, Abdullaev R, Safonov R (2016) EP16.17: the value of ultrasound studies after 24 gestational weeks for the diagnosis of fetal pathology in low-risk pregnancy. Ultrasound Obstet Gynecol 48(Suppl 1):336–337. https://doi.org/10.1002/uog.17019

Titel: The impact of third-trimester genetic counseling
verfasst von: Reuven Sharony
Offra Engel
Shira Litz-Philipsborn
Rivka Sukenik-Halevy
Tal Biron-Shental
Mark I. Evans
Publikationsdatum: 06.01.2018
Verlag: Springer Berlin Heidelberg
Erschienen in: Archives of Gynecology and Obstetrics / Ausgabe 3/2018
Print ISSN: 0932-0067
Elektronische ISSN: 1432-0711
DOI: https://doi.org/10.1007/s00404-017-4638-8

Neu im Fachgebiet Gynäkologie und Geburtshilfe

23.04.2024 | Medikamente in Schwangerschaft und Stillzeit | Nachrichten

Update Gynäkologie

Bestellen Sie unseren Fach-Newsletter und bleiben Sie gut informiert – ganz bequem per eMail.

Newsletter bestellen

Live-Webinar: Aktuelle Leitlinien bei Herz-Kreislauf-Erkrankungen

Springer Medizin

The impact of third-trimester genetic counseling

Abstract

Objective

Methods

Results

Conclusion

Neu im Fachgebiet Gynäkologie und Geburtshilfe

ICI-Therapie in der Schwangerschaft wird gut toleriert

Weniger postpartale Depressionen nach Esketamin-Einmalgabe

Bei RSV-Impfung vor 60. Lebensjahr über Off-Label-Gebrauch aufklären!

Harnwegsinfektprophylaxe: Es geht auch ohne Antibiotika

Update Gynäkologie

Live-Webinar: Aktuelle Leitlinien bei Herz-Kreislauf-Erkrankungen

Springer Medizin

Abstract

Objective

Methods

Results

Conclusion

Bitte loggen Sie sich ein, um Zugang zu diesem Inhalt zu erhalten

Weitere Artikel der Ausgabe 3/2018

Post-operative cognitive decline (POCD) after gynaecologic surgery: current opinions and future applications

Downregulation of miR-503 contributes to the development of drug resistance in ovarian cancer by targeting PI3K p85

Is fertility-preservation safe for adult non-metastatic gynecologic rhabdomyosarcoma patients? Systematic review and pooled survival analysis of 137 patients

Correction to: Simultaneous detection of periodontal pathogens in subgingival plaque and placenta of women with hypertension in pregnancy

Effects of dietary advice on insulin-like growth factors among healthy newborns

Should we consider integrated approach for endometriosis-associated infertility as gold standard management? Rationale and results from a large cohort analysis

Neu im Fachgebiet Gynäkologie und Geburtshilfe

ICI-Therapie in der Schwangerschaft wird gut toleriert

Weniger postpartale Depressionen nach Esketamin-Einmalgabe

Bei RSV-Impfung vor 60. Lebensjahr über Off-Label-Gebrauch aufklären!

Harnwegsinfektprophylaxe: Es geht auch ohne Antibiotika

Update Gynäkologie