Prenatal diagnosis of fetal cervicofacial anomalies.

Curr Opin Otolaryngol Head Neck Surg

Oregon Health and Science University, Portland, Oregon 97239, USA.

Published: December 2012

Purpose Of Review: To review the current literature on prenatal diagnosis of cervicofacial anomalies that may require neonatal intervention or that require prenatal counseling by a maternal-fetal medicine team and otolaryngology, head and neck surgery.

Recent Findings: Ultrasound and MRI imaging are complementary in the prenatal diagnosis of fetal anomalies that may present with the need for the head and neck surgeon to assist with airway management at delivery or that require prenatal counseling. Team approaches to delivery of at-risk infants have improved and there is more experience with the ex-utero intrapartum treatment (EXIT) procedure. The importance of planning and simulation for EXIT is essential prior to delivery. Future directions include in-utero gene therapy and fetal surgery.

Summary: Advances in detection and treatment of fetuses at risk for airway obstruction at birth and for accurate diagnosis of facial clefting will allow teams to continue to improve outcomes for these infants. Increased experience of such teams will allow refinement of protocols and indices for decision making regarding which fetuses will need treatment on placental support and which will do well with traditional delivery with treatment teams on standby. This will allow improved risk profiles for both mother and child.

Download full-text PDF

Source
http://dx.doi.org/10.1097/MOO.0b013e3283582e21DOI Listing

Publication Analysis

Top Keywords

prenatal diagnosis
12
will allow
12
diagnosis fetal
8
cervicofacial anomalies
8
require prenatal
8
prenatal counseling
8
head neck
8
prenatal
5
will
5
fetal cervicofacial
4

Similar Publications

This document aims to provide good practice recommendations in order to support maternal-foetal medicine specialists, clinical geneticists and clinical laboratory geneticists in the management of pregnancies obtained after the transfer of an embryo tested with preimplantation genetic testing (PGT). It was drafted by geneticists expert in preimplantation genetics and prenatal genetic diagnosis belonging to the "Working Group in Cytogenomics, Prenatal and Reproductive Genetics" of the "Italian Society of Human Genetics" (SIGU). In particular, the paper addresses the diagnostic algorithm to be applied in prenatal follow-up depending on the type of PGT performed, the results obtained and the related diagnostic value based on the most recent literature data and Italian and international recommendations.

View Article and Find Full Text PDF

Chromosomal Aberrations in Fetuses With Isolated Persistent Right Umbilical Vein-A Nationwide Study.

Prenat Diagn

January 2025

Center for Fetal Medicine and Pregnancy, Department of Gynecology, Fertility, and Pregnancy, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.

Objective: To evaluate the prevalence of chromosomal aberrations in fetuses with isolated PRUV in a nationwide cohort with 1st-trimester screening for aneuploidies.

Method: A retrospective study including all pregnancies in Denmark with a due date between 2010 and 2022. We retrieved all cases from patient files, where we searched for "PRUV" in the conclusion field.

View Article and Find Full Text PDF

Maternal cell-free DNA in early pregnancy for preeclampsia screening: a systematic review.

Arch Gynecol Obstet

January 2025

Faculty of Medicine and Health Sciences, Tel Aviv University, Tel Aviv, Israel.

Purpose: To quantify the separation between maternal blood cell-free (cf)DNA markers in preeclampsia and unaffected pregnancies and compare with existing markers. This approach has not been used in previous studies.

Methods: Comprehensive systematic literature search of PubMed to identify studies measuring total cfDNA, fetal cf(f)DNA or the fetal fraction (FF) in pregnant women.

View Article and Find Full Text PDF

Objective: To analyze the prevalence of prenatal tests of pregnant women and factors associated with variation in this prevalence in the years of the Brazilian National Health Survey 2013 and 2019.

Method: A cross-sectional study, carried out with women who underwent prenatal care, interviewed in the Brazilian National Health Survey 2013 (n = 1,851) and 2019 (n = 2,729).

Results: The most prevalent tests were urine and blood, and the least prevalent were syphilis and HIV.

View Article and Find Full Text PDF

Introduction: Intrauterine devices (IUDs) are highly effective contraceptives. Despite their effectiveness, pregnancies can occur during IUD use, and the management of such cases, particularly when the pregnancy is desired, remains controversial.

Material And Methods: We conducted a systematic review and meta-analysis to evaluate outcomes in women who unintentionally conceived while using IUDs and chose to continue their pregnancies.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!