Prenatal Diagnosis Of Fetal Defects Research Articles

Prenatal diagnosis of fetal defects and its implications on the delivery mode.

Congenital malformations are defined as single or multiple defects of the morphogenesis of organs or body parts, identifiable during intrauterine life or at birth. With recent advances in prenatal detection of congenital malformations, many of these disorders can be identified early on a routine fetal ultrasound. The aim of the present systematic review is to systematize the current knowledge about the mode of delivery in pregnancies complicated by fetal anomalies. The databases Medline and Ebsco were searched from 2002 to 2022. The inclusion criteria were prenatally diagnosed fetal malformation, singleton pregnancy, and known delivery mode. After the first round of research, 546 studies were found. For further analysis, studies with full text available concerning human single pregnancy with known neonatal outcomes were considered. Publications were divided into six groups: congenital heart defects, neural tube defects, gastroschisis, fetal tumors, microcephaly, and lung and thorax malformations. Eighteen articles with a descripted delivery mode and neonatal outcome were chosen for further analysis. In most pregnancies complicated by the presence of fetal anomalies, spontaneous vaginal delivery should be a primary option, as it is associated with lower maternal morbidity and mortality. Cesarean delivery is generally indicated if a fetal anomaly is associated with the risk of dystocia, bleeding, or disruption of a protective sac; examples of such anomalies include giant omphaloceles, severe hydrocephalus, and large myelomeningocele and teratomas. Fetal anatomy ultrasound should be carried out early, leaving enough time to familiarize parents with all available options, including pregnancy termination, if an anomaly is detected.

Prenatal Diagnosis of Fetal Chromosomes: Evaluation of Mi dtri mester Amniocetesis and Chorionic Villus Sampling in Early Pregnancy*

Abstract The congenital anomaly resulting from chromosomal aberrations is serious and well‐known. The incidence in newborn infants is estimated to be 0.5‐1% (WHO). In many cases the mechanism causing a chromosomal aberration is unknown. There appear to be the protective procedures. The procedure that fetal cells obtained by midtrimester amniocentesis could be grown in culture and karyotyped has opened a new area to genetic counseling for chromosomal aberrations. In the past 15 years, 949 pregnant women have undergone amniocentesis in our hospital. Most institutes now employ ultrasonography for examinations of the fetal position and the localization of placenta prior to amniocentesis. The use of this device remarkably reduced the incidence of fetal loss, and the amniocentesis appears to be safe and efficient. A discrepancy has been noted between the rates of chromosomal aberration by diagnosed at amniocentesis and the rates that would be expected from observation in live births. Multiple regression analysis was performed based on the personal informations of mother, providing what may be the risk factors for the recurrence of sibling with a non‐inhetrited chromosomal aberration.Recently, the technique to obtain chorionic villus in early pregnancy for the prenatal diagnosis of fetal defects, now being tested in the United States and Europe, may replace midtrimester amniocentesis within the next few years. The main advantage is that it can reduce the psychologic impact because emotional and physical stresses of a midtrimester abortion are serious problems. There are many possible approaches to obtain chorionic villus sample. Our experience has shown that biopsy forceps inserted via the cervix is most successful. The possibility was discussed that this may be developed in the future for clinical use as an alternative to amniocentesis.

Gel electrophoresis of amniotic fluid acetylcholinesterase as an aid to the prenatal diagnosis of fetal defects

The presence or absence of a specific acetylcholinesterase (AChE) band was determined by polyacrylamide gel electrophoresis on 272 second trimester amniotic fluid samples. The AChE band was absent from 176 normal samples, including seven which had been scored as false positives by alphafetoprotein (AFP) assay. It was present in all 30 samples from open neural tube defects, of which four had been scored as false negatives by AFP assay. In the remaining 66 pregnancies with abnormal outcome, an AChE band was in general present when AFP was raised and absent when it was normal. However, all six cases of congenital nephrosis had raised AFP and no AChE band, while two of 30 pregnancies ending in spontaneous abortion had an AChE band and normal AFP. These results suggest that AChE electrophoresis is a valuable confirmatory technique for the early prenatal diagnosis of fetal abnormalities.