Prenatal screening for pre-eclampsia using PlGF and SFlt-1 in the early second trimester

Down syndrome is the single most common cause of severe mental handicap in Australia. Prenatal screening for Down syndrome is therefore an important component of modern antenatal care. However, while effective second trimester serum screening for Down syndrome has been available in Australia for almost a decade it appears that the majority of Australian women, particularly those outside South Australia and New South Wales, are still not offered it. Newer methods of screening have been recently described and are already being offered in routine clinical practice. These methods, including nuchal translucency, will afford results earlier in pregnancy than second trimester serum screening and so are attractive to women. However, available evidence suggests that nuchal translucency may not perform as well as second trimester serum screening and further evaluation of the newer screening strategies in an Australian population is urgently required. Alteration of practice prior to such an evaluation is simply not warranted at this time.

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Cytogenetic analysis in fetuses with late onset abnormal sonographic findings

Journal of Perinatal Medicine ◽

10.1515/jpm-2017-0071 ◽

2018 ◽

Vol 46 (9) ◽

pp. 975-982 ◽

Cited By ~ 5

Author(s):

Ron Bardin ◽

Eran Hadar ◽

Lylach Haizler-Cohen ◽

Rinat Gabbay-Benziv ◽

Israel Meizner ◽

...

Keyword(s):

Microarray Analysis ◽

Prenatal Screening ◽

Late Onset ◽

Normal Karyotype ◽

Screening Tests ◽

Chromosomal Microarray ◽

Chromosomal Microarray Analysis ◽

Second Trimester ◽

Ultrasound Findings ◽

Fetal Karyotype

AbstractObjective:To determine the rate of chromosomal cytogenetic abnormalities in fetuses with late onset abnormal sonographic findings.Design:Retrospective cohort of women who underwent amniocentesis at or beyond 23 weeks of gestation, for fetal karyotype and chromosomal microarray analysis, indicated due to late onset abnormal sonographic findings.Results:All 103 fetuses had a normal karyotype. Ninety-five women also had chromosomal microarray analysis (CMA) performed. The detection rate of abnormal CMA (5/95, 5.3%) was similar to that of women who underwent amniocentesis due to abnormal early onset ultrasound findings detected at routine prenatal screening tests during the first or early second trimester (7.3%, P=0.46) and significantly higher than that for women who underwent amniocentesis and CMA upon request, without a medical indication for CMA (0.99%, P<0.0001).Conclusions:Late onset sonographic findings are an indication for amniocentesis, and if performed, CMA should be applied to evaluate fetuses with late onset abnormal sonographic findings.

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Prenatal screening for trisomy 18 in the second trimester

Prenatal Diagnosis ◽

10.1002/pd.1970100813 ◽

1990 ◽

Vol 10 (8) ◽

pp. 546-548 ◽

Cited By ~ 95

Author(s):

J. A. Canick ◽

G. E. Palomaki ◽

R. Osathanondh

Keyword(s):

Prenatal Screening ◽

Trisomy 18 ◽

Second Trimester

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Noninvasive Prenatal Screening Based on Second-Trimester Ultrasonographic Soft Markers in Low-Risk Pregnant Women

Frontiers in Genetics ◽

10.3389/fgene.2021.793894 ◽

2021 ◽

Vol 12 ◽

Author(s):

Yunyun Liu ◽

Xiaosha Jing ◽

Lingling Xing ◽

Sha Liu ◽

Jianlong Liu ◽

...

Keyword(s):

Pregnant Women ◽

Prenatal Screening ◽

Sex Chromosome ◽

Nasal Bone ◽

Low Risk ◽

Trisomy 13 ◽

Second Trimester ◽

Predictive Values ◽

Noninvasive Prenatal Screening ◽

Hypoplastic Nasal Bone

Background: We aimed to assess the clinical application of noninvasive prenatal screening (NIPS) based on second-trimester ultrasonographic soft markers (USMs) in low-risk pregnant women.Methods: Data of pregnant women between April 2015 and December 2019 were retrospectively analyzed. Pregnant women [age at expected date of confinement (EDC) of <35 years; low risks for trisomy 21 (T21) and trisomy 18 (T18) based on maternal serum screening; presenting second-trimester USMs (7 types)] who successfully underwent NIPS and had available follow-up information were included in our study. Cases with positive NIPS results were prenatally diagnosed. All patients were followed up for 6 months to 2 years after NIPS, and their clinical outcomes were obtained. Subgroup analyses were performed according to the different USMs.Results: NIPS suggested that among a total of 10,023 cases, 37 (0.37%) were at high risk of aneuploidy, including 4 T21, 6 trisomy 13 (T13), and 27 sex chromosome abnormalities (SCA). Ten cases with aneuploidy (0.10%) were confirmed by prenatal diagnosis, consisting of two T21 and eight SCA. The eight fetuses with SCA consisted of one monosomy X, two XXY, one XXXY, one XXX, one XYY, and two mosaicisms. T21 was detected in one fetus with absent or hypoplastic nasal bone and one fetus with echogenic intracardiac focus (EICF). SCA was detected in five fetuses with EICF, two fetuses with multiple soft markers, and one fetus with echogenic bowel. The positive rate of chromosomal aneuploidy was significantly higher in fetuses with absent or hypoplastic nasal bone (6.25 vs. 0.10%, p = 0.017), echogenic bowel (3.7 vs. 0.10%, p = 0.029), and multiple soft markers (0.678 vs. 0.10%, p = 0.045) than in the total fetuses. The positive predictive values (PPVs) of NIPS in these three groups were 100%, 50%, and 100%, respectively. EICF accounted for 93.25% (9,346/10,023) of the study population, whereas the PPV of NIPS was only 20%.Conclusion: NIPS is an advanced screening test for low-risk pregnant women. In the 10,023 pregnant women sampled, SCA were more common than autosomal trisomy, and EICF was the most frequent USM but the least predictive aneuploidy. Further aneuploidy evaluation is suggested for low-risk pregnant women whose ultrasound indicates absent or hypoplastic nasal bone, echogenic bowel, or multiple soft markers. NIPS can serve as a second-line complementary screening for these women.

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Improvement of second trimester prenatal screening after inclusion of inhibin a determination

Clinica Chimica Acta ◽

10.1016/j.cca.2019.03.1225 ◽

2019 ◽

Vol 493 ◽

pp. S584

Author(s):

A. Alonso Llorente ◽

A. Gutierrez Samper ◽

M. Fabre Estremera ◽

A. Fernandez Gonzalez ◽

M.A. Castillo Arce ◽

...

Keyword(s):

Prenatal Screening ◽

Second Trimester ◽

Inhibin A

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The impact of preimplantation genetic testing for aneuploidy on prenatal screening

Journal of Perinatal Medicine ◽

10.1515/jpm-2021-0495 ◽

2021 ◽

Vol 0 (0) ◽

Author(s):

Moti Gulersen ◽

Alexandra Peyser ◽

Jiyoung Kim ◽

Amanda Ferraro ◽

Randi Goldman ◽

...

Keyword(s):

Genetic Testing ◽

Prenatal Screening ◽

Diagnostic Testing ◽

Second Trimester ◽

Preimplantation Genetic Testing ◽

Prenatal Diagnostic ◽

Second Trimester Screening ◽

The Impact ◽

Prenatal Diagnostic Testing ◽

Euploid Embryo

Abstract Objectives To determine whether preimplantation genetic testing for aneuploidy (PGT-A) is associated with a reduced risk of abnormal conventional prenatal screening results in singleton pregnancies conceived using in vitro fertilization (IVF). Methods This was a retrospective cohort study of singleton IVF pregnancies conceived from a single tertiary care center between January 2014 and September 2019. Exclusion criteria included mosaic embryo transfers, vanishing twin pregnancies, and cycles with missing outcome data. Two cases of prenatally diagnosed aneuploidy that resulted in early voluntary terminations were also excluded. The primary outcome of abnormal first or second-trimester combined screening results was compared between two groups: pregnancy conceived after transfer of a euploid embryo by PGT-A vs. transfer of an untested embryo. Multivariable backwards-stepwise logistic regression with Firth method was used to adjust for potential confounders. Results Of the 419 pregnancies included, 208 (49.6%) were conceived after transfer of a euploid embryo by PGT-A, and 211 (50.4%) were conceived after transfer of an untested embryo. PGT-A was not associated with a lower likelihood of abnormal first-trimester (adjusted OR 1.64, 95% CI 0.82–3.39) or second-trimester screening results (adjusted OR 0.96, 95% CI 0.56–1.64). The incidences of cell-free DNA testing, fetal sonographic abnormalities, genetic counseling, and invasive prenatal diagnostic testing were similar between the two groups. Conclusions Our data suggest that PGT-A is not associated with a change in the likelihood of abnormal prenatal screening results or utilization of invasive prenatal diagnostic testing. Counseling this patient population regarding the importance of prenatal screening and prenatal diagnostic testing, where appropriate, remains essential.

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