Results 71 to 80 of about 4,269,423 (255)

High Diagnosis Rate for Nonimmune Hydrops Fetalis With Prenatal Clinical Genome: Expanded Results From the Hydrops‐Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nonimmune hydrops fetalis (NIHF) is characterized by abnormal fluid accumulation in ≥ 2 fetal compartments and may be genetic. The incremental diagnostic yield of prenatal exome sequencing (ES) for NIHF following a negative standard workup was previously explored on 22 cases.
Stephanie M. Rice, Mona M. Makhamreh, Sascha Wodoslawsky, Mariella Toro, Elizabeth Critchlow, Brandy Firman, Ruby Liu, Babi Ramesh Nallamilli, Madhuri Hegde, Seth I. Berger, Huda B. Al‐Kouatly   +10 more
wiley   +1 more source

The Changing Association Between Prenatal Participation in WIC and Birth Outcomes in New York City [PDF]

We analyze the relationship between prenatal WIC participation and birth outcomes in New York City from 1988-2001. The analysis is unique for several reasons.
Ted Joyce, Diane Gibson, Silvie Colman
core  

A Rare Form of Microcephalic Primordial Dwarfism due to NSMCE2 Deficiency (Seckel Syndrome Type 10): A Report of Macular Involvement

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto, Céline Huber, Clément Paya, Isabelle Audo, Nathalie Boddaert, Valérie Cormier‐Daire   +5 more
wiley   +1 more source

Delayed Recognition of Maternal G6PD Heterozygous Status Across Prenatal and Newborn Care Interfaces

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glucose‐6‐phosphate dehydrogenase (G6PD) deficiency is the most common red blood cell enzymatic disorder worldwide. Although many heterozygotes are asymptomatic, affected neonates have an increased risk for hyperbilirubinemia and related complications.
Mona M. Makhamreh, Ramiah R. Vickers, Cheryl Mensah, Wanda Dosal, Jennifer R. McKinney, April D. Adams   +5 more
wiley   +1 more source

What About Mom? The Forgotten Beneficiary of the Medicaid Expansions [PDF]

This paper contributes to evidence regarding the effectiveness of the Medicaid expansions by focusing on a key beneficiary - the mother - who has previously been overlooked.
Andrea Kutinova, Karen Smith Conway
core  

L‐Cysteine and N‐Acetylcysteine Supplementation Improves Clinical Outcome in a Patient With COXPD10

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MTO1 is a nuclear gene that encodes a mitochondrial protein essential for modifying mitochondrial transfer RNAs (tRNAs) and stabilizing codon‐anticodon interactions to ensure accurate and efficient mitochondrial protein synthesis and oxidative phosphorylation.
Nishitha R. Pillai, Sara A. Elsbecker, Grace Bronken McCarthy, Kaitlin Weisshappel, Peter Karachunski, Fernando Scaglia   +5 more
wiley   +1 more source

Expanding the Phenotypic Spectrum of TXNDC15‐Related Ciliopathies to Include Joubert Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic loss‐of‐function variants in TXNDC15 are a known cause of the perinatally lethal ciliopathy Meckel syndrome (MKS). TXNDC15 encodes an endoplasmic reticulum (ER)‐resident thioredoxin‐domain protein required for ciliary transition zone integrity.
Zachary T. Sentell, Robert Geraghty, Juliana E. Arcila‐Galvis, Praveen Dhondurao‐Sudhindar, Sergio Foullerat Cañada, Fulvio D'Abrusco, Bosanka Jocic‐Jakubi, Miguel Barroso‐Gil, Valentina Serpieri, Thomas M. Kitzler, Kate E. Chandler, Eleanor G. Seaby, Gabrielle Wheway, Jennifer C. Dempsey, Dan Doherty, Enza M. Valente, John A. Sayer   +16 more
wiley   +1 more source

Noninvasive prenatal tests for chromosomal abnormality screening in in vitro fertilisation elderly pregnant women in northwest China [PDF]

Journal of Medical Biochemistry
Background: The study aimed to explore the value of using noninvasive prenatal tests (NIPT) in the second trimester of pregnancy for chromosomal abnormality screening in vitro fertilisation (IVF) in elderly pregnant women and to analyse the reasons for ...
Xue Shuyuan, Wang Lixia, Yu Zhen, Zhu Jingying, Feng Le, Din Guifeng, Dai Penggao   +6 more
doaj   +1 more source

Prenatal care in the United States, 1980-94 [PDF]

OBJECTIVES: This report examines trends in timing of prenatal care in the United States from 1980 to 1994. Demographic characteristics examined include age, race, Hispanic origin, marital status, place of birth of mother, educational attainment of mother,

core  

Utilization of a prenatal palliative care consultation pathway for congenital heart disease

, 2022
Over 4 decades, short- and long-term survival for children with congenital heart disease (CHD) has significantly increased. Those with complex CHD have a 1-year mortality rate of approximately 25%.
Walsh, Susan M, Meggan Mikal, Mikal, Meggan, Susan M. Walsh, Gandhi, Rupali, Rupali Gandhi   +5 more
core   +1 more source