415: The utility of first trimester ultrasound for women with a negative free fetal DNA

This review article offers an analysis of application of cell-free fetal DNA non-invasive prenatal screening test for chromosome abnormalities in the mothers blood in different countries. The diagnostic capacities of the method, its limitations, execution models and ethical aspects pertinent to its application are discussed. The data for the discordant results is shown and analyzed. The advantages of the genome-wide variant of cell-free fetal DNA analysis and the problems concerning its application in the mass screening are described. The main suggestion is to implement the contingent cell-free fetal DNA testing model for the common trisomies (for the chromosomes 21, 18 and 13) into the prenatal diagnostic screening programs in the Russian Federation. This novel model is based on the results of the mass combined first trimester prenatal screening in four federal subjects of the country completed by 2019 and is offered as an additional screening in the mid-level risk group (with cut-off from 1 : 100 to 1 : 500 or from 1 : 100 to 1 : 1000) defined according to the first trimester prenatal screening results. The basic requirements for the implementation of the contingent model in the Russian Federation are stated.

Download Full-text

When diamniotic twins suddenly become monoamniotic twins: spontaneous septostomy of the dividing membrane

BMJ Case Reports ◽

10.1136/bcr-2021-243513 ◽

2021 ◽

Vol 14 (7) ◽

pp. e243513

Author(s):

Angela Vidal ◽

Cristina Nastasia ◽

Markus Hodel ◽

Joachim Kohl

Keyword(s):

Twin Pregnancy ◽

Rare Condition ◽

First Trimester ◽

Sonographic Diagnosis ◽

Sudden Failure ◽

Reliable Diagnosis ◽

Accepted Standard ◽

Perinatal Management ◽

Twin Pregnancies ◽

First Trimester Ultrasound

In twin pregnancies, amnionicity and chorionicity are crucial as they strongly determine prenatal and perinatal management. First trimester ultrasound allows a highly reliable diagnosis of amnionicity and chorionicity, making it an internationally accepted standard in antenatal care. However, in rare cases, amnionicity can change from diamniotic to monoamniotic throughout pregnancy, substantially impacting perinatal management. We report the case of a confirmed monochorionic diamniotic twin pregnancy with a diagnosis of spontaneous septostomy of the dividing membrane (SSDM) at 28 weeks of gestation, resulting in a pseudomonoamniotic pregnancy. Even though SSDM is a rare condition and its sonographic diagnosis might be challenging, it should be considered if, in a known diamniotic pregnancy, there is a sudden failure to visualise the intertwin membrane truly separating both twins.

Download Full-text

The Use of First Trimester Ultrasound

Journal of Obstetrics and Gynaecology Canada ◽

10.1016/s1701-2163(16)30680-6 ◽

2003 ◽

Vol 25 (10) ◽

pp. 864-869 ◽

Cited By ~ 17

Keyword(s):

First Trimester ◽

First Trimester Ultrasound

Download Full-text

Ultrasound Evaluation of Pregnancy in the First Trimester

Donald School Journal of Ultrasound in Obstetrics & Gynecology ◽

10.5005/jp-journals-10009-1125 ◽

2010 ◽

Vol 4 (1) ◽

pp. 17-28 ◽

Cited By ~ 3

Author(s):

George M Graham

Keyword(s):

Early Pregnancy ◽

First Trimester ◽

Transvaginal Sonography ◽

List Type ◽

Intrauterine Pregnancy ◽

Ultrasound Evaluation ◽

Early Pregnancy Failure ◽

Ultrasound Findings ◽

Ultrasound Technology ◽

First Trimester Ultrasound

Abstract Improvements in ultrasound technology, including transvaginal sonography and higher frequency probes, have led to a better understanding of early pregnancy development. These advances and the increasing availability of ultrasound allow women to have an earlier and more accurate assessment of their pregnancy. First trimester sonographic signs have been identified that can be used to reassure women that their pregnancy is progressing normally or counsel them that their pregnancy will fail. In addition, first trimester ultrasound can accurately predict the type of twinning in multiple gestations, allowing for appropriate counseling and management. Objectives Know the first trimester ultrasound findings of a normal intrauterine pregnancy Understand the ultrasound findings that diagnose an early pregnancy failure Know the ultrasound criteria used to diagnose a multifetal gestation

Download Full-text

INCREASED NUCHAL TRANSLUCENCY IN A FETUS WITH A NORMAL KARYOTYPE: CASE REPORT

Romanian Journal of Clinical Research ◽

10.33695/rjcr.v2i1.24 ◽

2019 ◽

Vol 2 (1) ◽

pp. 59-61

Author(s):

Cristina Moisei ◽

Anca Lesnica ◽

Romina Marina Sima ◽

Liana Pleș

Keyword(s):

Chorionic Villus ◽

Normal Karyotype ◽

First Trimester ◽

Nuchal Translucency ◽

Trisomy 18 ◽

Trisomy 13 ◽

Chorionic Villus Sampling ◽

Increased Risk ◽

First Trimester Ultrasound ◽

Increased Nuchal Translucency

Nuchal translucency (NT) is the normal fluid filled subcutaneous space measured at the back of the fetal neck measured in the late first trimester and early second trimester. Nuchal translucency screening can detect approximately 80% of fetuses with Down syndrome and other major aneuploidies with a rate of 5% of false positive results, but the merger of the NT screening with β-hCG and PAPP-A testing increases the detection rate to 90%. We present the case of a fetus with a NT of 49 mm detected at the first trimester ultrasound morphologic exam. The Kryptor test revealed a 1:35 risk for Trisomy 13 and 1:721 for Trisomy 18. We report the case of an investigated pregnancy with a NT of 49 mm detected at the first trimester ultrasound exam, with a risk of 1:35 for Trisomy 13 and 1:721 for Trisomy 18 calculated at the Kryptor test. A chorionic villus sampling was recommended and performed with a result of 46XY normal karyotype. The particularity of this case is represented by the increased nuchal translucency as well as an increased risk for trisomy 13 and 18 in a normal karyotype fetus that had a normal development in the second and third trimester with no pregnancy complications arising.

Download Full-text