OBJECTIVES Newborn screening for cystic fibrosis (CF) facilitates early diagnosis and genetic counselling for parents of affected infants. Many parents elect to use prenatal testing for subsequent pregnancies, and this may affect the prevalence of CF. The aim of this study was to assess the evidence for changes in the live-birth prevalence of CF since the introduction of newborn screening for C...

BACKGROUND Delayed diagnosis of critical congenital heart disease (CCHD) in neonates increases morbidity and mortality. The use of pulse oximetry screening is recommended to increase detection of these conditions. The contribution of pulse oximetry in a tertiary-care birthing center may be different from at other sites. METHODS We analyzed CCHD pulse oximetry screening for newborns ≥ 35 weeks...

OBJECTIVE Congenital heart disease (CHD) is the most common congenital malformation and causes major morbidity and mortality. Prenatal detection improves the neonatal condition before surgery, resulting in less morbidity and mortality. In the Netherlands a national prenatal screening programme was introduced in 2007. This study evaluates the effects of this screening programme. DESIGN Geograp...

I Introduction II Populations targeted by public health genetics interventions III Ethical, legal, and social implications of public health genetic interventions III 1. Use of genetic information: confidentiality and discrimination III 2. DNA banks III 3. Prenatal diagnosis, assisted reproduction and embryo selection IV Examples of the role of public health in genetics IV 1. Folic acid and neur...

In the near future developments in non-invasive prenatal testing (NIPT) may soon provide couples with the opportunity to test for and diagnose a much broader range of heritable and congenital conditions than has previously been possible. Inevitably, this has prompted much ethical debate on the possible implications of NIPT for providing couples with opportunities for reproductive choice by way ...

OBJECTIVE To provide obstetrical and genetic health care practitioners with guidelines and recommendations for prenatal screening, diagnosis, and obstetrical management of fetal open and closed neural tube defects (OCNTD). OPTIONS This review includes prenatal screening and diagnostic techniques currently being used for the detection of OCNTD including maternal serum alpha fetoprotein screeni...

context prenatal testing aims to identify fetal chromosomal and genetic disorders prior to delivery. current invasive procedures such as amniocentesis and chorionic villus sampling (cvs) pose a risk to mother and fetus and such diagnostic procedures are available only to high-risk pregnancies, which limits aneuploidy detection rate. the identification of cell-free fetal dna (cffdna) in maternal ...

A few trials on prenatal CF carrier screening have been performed assessing what proportion of pregnant women are likely to be offered screening and what proportion are likely to accept the test if it is offered free by their own physician (Rowley PT, 1997; Loader S, 1996). A paucity of experience-database is available on CF carrier screening and to terminate CF affected pregnancies. Women foun...

OBJECTIVE To provide a Canadian consensus document with recommendations on prenatal screening for and diagnosis of fetal aneuploidy (e.g., Down syndrome and trisomy 18) in twin pregnancies. OPTIONS The process of prenatal screening and diagnosis in twin pregnancies is complex. This document reviews the options available to pregnant women and the challenges specific to screening and diagnosis ...

Penelitian ini bertujuan untuk mengetahui pengaruh yoga prenatal terhadap perbedaan kecemasan dan regulasi emosi ibu hamil di masa pandemi COVID-19. dilakukan pada dengan 74 subjek. Alat ukur yang digunakan adalah Emotion Regulation Questionnaire (ERQ) serta Perinatal Anxiety Screening Scale (PASS). Hasil penelitian menunjukkan bahwa terdapat signifikan antara kedua kelompok (F(1, 71)=8,177; p=...