Prenatal Diagnosis
SCIE-ISI SCOPUS (1980-2023)
1097-0223
0197-3851
Anh Quốc
Cơ quản chủ quản: John Wiley and Sons Ltd , WILEY
Các bài báo tiêu biểu
Cytogenetic data are presented for 11 473 chorionic villus sampling (CVS) procedures from nine centres in the U.S. NICHD collaborative study. A successful cytogenetic diagnosis was obtained in 99.7 per cent of cases, with data obtained from the direct method only (26 per cent), culture method only (42 per cent), or a combination of both (32 per cent). A total of 1.1 per cent of patients had a second CVS or amniocentesis procedure for reasons related to the cytogenetic diagnostic procedure, including laboratory failures (27 cases), maternal cell contamination (4 cases), or mosaic or ambiguous cytogenetic results (98 cases). There were no diagnostic errors involving trisomies for chromosomes 21, 18, and 13. For sex chromosome aneuploidies, one patient terminated her pregnancy on the basis of non‐mosaic 47,XXX in the direct method prior to the availability of results from cultured cells. Subsequent analysis of the CVS cultures and fetal tissues showed only normal female cells. Other false‐positive predictions involving non‐mosaic aneuploidies (
Ultrasound for routine fetal malformation screening has been polemical from its early beginning because of the very broad range of diagnosis rates disclosed, i.e. from 13% to 82%, average 27.5%. A review of available studies is proposed to assess objectively the efficacy of ultrasound, considering also economical, ethical and methodological aspects as influential factors for choosing a routine screening policy. The utility of fetal malformation diagnosis before birth is brought forward, including second opinion, karyotyping, poly‐disciplinary case discussion prior to management. Method and material of reviewed studies considerably vary and might influence the sensitivity results, as the choice of the population sample and selection of pregnant women, gestation age at screening, distribution of malformation among systems or tracts, exclusion of some fetal malformation and the routine practice of autopsy. Efficiency of screening studies is compared, and among them Radius and Eurofetus studies. Average sensitivity is finally considered as satisfactory in the daily practice when operated by trained personnel. The importance of additional factors for successful screening are emphasized such as education, equipment quality and fetal ultrasound examination at different gestation age for a better understanding of natural history of fetal morphology. Copyright © 2002 John Wiley & Sons, Ltd.
In a retrospective collaborative study involving 21 U.K. laboratories and 11775 CVS prenatal diagnostic procedures, a total of 73 cases of confined placental mosaicism (CPM) were identified among the 8004 first‐trimester referrals because of advanced maternal age, a previous child with a numerical chromosome abnormality, or a family history of the same. Data were collected on subsequent cytogenetic follow‐up and pregnancy outcome for each case and a referral matched control. Comparison with the control population failed to demonstrate a marked increase in adverse pregnancy outcome in the CPM group, but a significant increase in both low and high birth weight infants was recorded. In a parallel study, 7 out of 108 cases, referred for prenatal diagnosis because of ultrasound detection of isolated intrauterine growth retardation (IUGR) in the second or third trimester, were shown to have a chromosome abnormality restricted to the extraembryonic tissues. These included cases of CPM involving trisomy 9 and del(13)(q13), neither of which has previously been reported in association with IUGR.
To examine the potential value of maternal serum concentration of placental protein 13 (PP13) at 11–13 weeks' gestation in screening for preeclampsia (PE).
Serum PP13, PAPP‐A and uterine artery pulsatility index (PI) were determined in a case–control study of 208 cases that developed PE including 48 that required delivery before 34 weeks (early‐PE) and 416 unaffected controls.
Serum PP13 levels, expressed as multiples of the median (MoM) in the unaffected group, were significantly reduced in early‐PE (0.83 MoM) but not in late‐PE (0.96 MoM). In both early‐ and late‐PE serum PAPP‐A (0.55 and 0.84 MoM) was reduced and uterine artery PI (1.61 and 1.25 MoM) was increased. In PE pregnancies there was a significant association between serum PP13 and both uterine artery PI and serum PAPP‐A (
PP13 is implicated in the pathogenesis of impaired placentation and subsequent development of early‐PE but measurement of this placental product is unlikely to be useful in screening for the disease at 11–13 weeks. Copyright © 2009 John Wiley & Sons, Ltd.
To determine the natural history and outcome of fetal cardiac tumors.
This was a retrospective cohort study of all prenatally detected cases of cardiac tumors at a tertiary cardiac care center.
Forty fetuses were identified to have one or several cardiac tumors in association with fetal hydrops (18%), ventricular obstruction (30%) and/or arrhythmia (13%). Of 33 cases with rhabdomyoma, three patients elected to terminate the pregnancy, four offspring died at birth and 26 (79%) survived. On follow‐up, 95% of all live‐born cases with rhabdomyomas were free of cardiac symptoms but 88% had tuberous sclerosis. All three fetuses with teratoma presented with hydrops and none of them survived. In contrast, all three fetuses with cardiac fibroma are alive and have a biventricular physiology. One fetus with a large atrial hemangioendothelioma died in early infancy. Fetal or neonatal death was associated with an earlier cardiac anomaly diagnosis, earlier delivery, larger tumor size and fetal hydrops at presentation.
The outcome of fetal cardiac tumors was predicted by the etiology and size of the cardiac mass and the presence of hydrops. Although most cardiac rhabdomyomas have a relatively benign perinatal course, the long‐term prognosis is determined by the neurological manifestations associated with tuberous sclerosis. Copyright © 2010 John Wiley & Sons, Ltd.
The use of prenatal ultrasound has proven efficacious for the prenatal diagnosis of chromosomal abnormalities. The first sonographic sign of Down syndrome, the thickened nuchal fold, was first described in 1985. Since that time, multiple sonographically‐identified markers have been described as associated with Down syndrome. The genetic sonogram, involving a detailed search for sonographic signs of aneuploidy, can be used to both identify fetuses at high risk for aneuploidy and, when normal, can be used to decrease the risk for aneuploidy for a pregnancy when no sonographic markers are identified. Combining the genetic sonogram with maternal serum screening may be the best method of assessing aneuploidy risk for women who desire such an assessment in the second trimester. Trisomy 18, Trisomy 13, and triploidy are typically associated with sonographically identified abnormalities and have a high prenatal detection rate. The use of the described sonographic signs in low‐risk women requires further investigation, however, patients at increased risk for aneuploidy due to advanced maternal age or abnormal serum screening can benefit from a genetic sonogram screening for sonographic signs of aneuploidy to adjust their baseline risk of an affected fetus. Copyright © 2002 John Wiley & Sons, Ltd.
Expanded carrier screening (ECS), which can identify carriers of a large number of recessive disorders in the general population, has grown in popularity and is now widely accessible to prospective parents. This article presents a comprehensive overview of the characteristics of currently available ECS tests.
To identify relevant ECS providers, we employed a multi‐step approach, which included online searching, review of the recent literature, and consultations with researchers familiar with the current landscape of ECS.
As of January 2017, there were 16 providers of ECS tests: 13 commercial companies, 2 medical hospitals, and 1 academic diagnostic laboratory. We observed drastic differences in the characteristics of ECS tests, with the number of conditions ranging from 41 to 1792. Only three conditions (cystic fibrosis, maple syrup urine disease 1b, and Niemann–Pick disease) were screened for by all providers. Where the same disease gene was included by multiple providers, substantial differences existed in the mutations screened and/or variant interpretation/reporting strategies.
Given the importance of carrier screening results in reproductive decision‐making, the observed heterogeneity across ECS panels is concerning. Efforts should be made to ensure that clear and concrete criteria are in place to guide the development of ECS panels. © 2017 John Wiley & Sons, Ltd.
Corpus callosum agenesis (CCA) is generally diagnosed
We prospectively evaluated 17 children. Clinical examinations, neuropsychological tests were performed each year. School achievement and personal and familial data were collected.
Twelve children completed the entire follow up. One child was finally considered to have associated CCA, because signs of fetal alcohol syndrome had become obvious. Of the 11 other children, three (27%) had borderline intelligence whereas the intelligence levels of eight (73%) were in the normal range, although half of these children experienced some difficulties in scholastic achievement. Neither epilepsy nor intellectual deficiency was noted and intellectual quotient scores correlated strongly with the mother's education level.
Although prenatal diagnosis of isolated CCA is reliable, false postnatal diagnoses remain possible (10–20%) even with complete prenatal screening. Outcome is mostly favorable because intelligence is within the normal range for nearly 3/4 of the children. However, they frequently have mild learning difficulties. © 2012 John Wiley & Sons, Ltd.
To evaluate whether first trimester maternal serum PP13 can predict pre‐eclampsia among women with
This was a nested case–control study. Women less than 14 weeks' gestation at increased risk of developing pre‐eclampsia were recruited. Venous blood samples were assayed for PP13 using enzyme‐linked immunosorbent assay. PP13 multiples of median (MoM) were calculated and adjusted for body mass index, ethnicity, smoking, maternal age and parity. For each case of pre‐eclampsia (
Women who developed pre‐eclampsia had significantly lower (
First trimester PP13 can predict pre‐eclampsia in women at increased