Prenatal Detection of Fetal Anomalies at the 11- to 13-Week Scan—Part I: Brain, Face and Neck

ABSTRACT In the last 20 years, the role of first-trimester ultrasound screening has expanded from individual calculation of the risk of aneuploidy through measurement of the nuchal translucency to a powerful technique to evaluate important aspects of the fetal anatomy. Traditionally, the full anatomy scan for detection of structural anomalies has been performed in the second trimester of pregnancy. However, with the implementation of the first-trimester scan at 11 to 13 weeks of gestation many of the structural anomalies traditionally detected in the second trimester can now be identified earlier in pregnancy. In the first part of this review we discuss the main ultrasound findings that may facilitate the prenatal detection of fetal brain, face and neck abnormalities in the first trimester of pregnancy. How to cite this article Sepulveda W, Illescas T, Adiego B, Martinez-Ten P. Prenatal Detection of Fetal Anomalies at the 11- to 13-Week Scan—Part I: Brain, Face and Neck. Donald School J Ultrasound Obstet Gynecol 2013;7(4):359-368.

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Prenatal Biochemical and Ultrasound Markers in COVID-19 Pregnant Patients: A Prospective Case-Control Study

Diagnostics ◽

10.3390/diagnostics11030398 ◽

2021 ◽

Vol 11 (3) ◽

pp. 398

Author(s):

Stefano Cosma ◽

Andrea Roberto Carosso ◽

Fulvio Borella ◽

Jessica Cusato ◽

Marialuisa Bovetti ◽

...

Keyword(s):

Protein A ◽

Prenatal Testing ◽

First Trimester ◽

Negative Control ◽

Control Group ◽

Case Group ◽

Ultrasound Screening ◽

Second Trimester ◽

Fetal Anomalies ◽

First Trimester Of Pregnancy

This prospective observational study aimed to evaluate whether women with SARS-CoV-2 infection during the first trimester of pregnancy are at higher risk of noninvasive prenatal screening test alterations and/or of congenital fetal anomalies at the second-trimester fetal anatomy scan. Maternal symptoms were secondly investigated. The study was carried out on 12-week pregnant women admitted for noninvasive prenatal testing (16 April and 22 June 2020). The cohort had seromolecular tests for SARS-CoV-2, after which they were divided into a positive case group and a negative control group. Both groups had 20-week ultrasound screening. Seventeen out of the 164 women tested positive for SARS-CoV-2 (10.3%). There were no significant differences in mean nuchal translucency thickness or biochemical markers (pregnancy-associated plasma protein A, alpha-fetoprotein, human chorionic gonadotropin, unconjugated estriol) between cases and controls (p = 0.77, 0.63, 0.30, 0.40, 0.28) or in the fetal incidence of structural anomalies at the second-trimester fetal anatomy scan (p = 0.21). No pneumonia or hospital admission due to COVID-19-related symptoms were observed. Asymptomatic or mildly symptomatic SARS-CoV-2 infection during the first trimester of pregnancy did not predispose affected women to more fetal anomalies than unaffected women. COVID-19 had a favorable maternal course at the beginning of pregnancy in our healthy cohort.

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Cytomegalovirus Infection during Pregnancy and Its Impact on the Intrauterine Fetal Development â€“ Case Report

Open Access Macedonian Journal of Medical Sciences ◽

10.3889/oamjms.2016.078 ◽

2016 ◽

Vol 4 (3) ◽

pp. 449-452 ◽

Cited By ~ 2

Author(s):

Mariya Angelova Angelova ◽

Emil Kovachev ◽

Nikolai Todorov

Keyword(s):

Clinical Manifestations ◽

First Trimester ◽

Time Interval ◽

Good Prediction ◽

Ultrasound Screening ◽

Serological Tests ◽

Ultrasound Findings ◽

First Trimester Of Pregnancy ◽

Brain Ventricle

AIM: The aim of this publication is to present a case of CMV infection during pregnancy, with clinical manifestations of the development of microcephaly and simultaneous dilatation of the 3rd and 4th brain ventricle at 23 weeks gestation. This article discusses the role of ultrasound screening in the second trimester of pregnancy.CASE PRESENTATION: We present the case of a 25-year-old woman with the initials S.K. in her second pregnancy that came to our antenatal Consulting Centre. The first screening for blood count, blood group, biochemistry and serology showed results within the reference range. The patient came for a second comprehensive biochemical screening at 17 â€“ 18 weeks gestation. The results showed the low genetic risk of congenital anomalies. Fetal morphology of the fetus was normal. S.K. came again for consultation at 22 weeks gestation in connection with the admittance of her first 3-year-old child to the hospital because of pneumonia. Serological tests of the child had shown elevated CMV titer - specific IgM. Then we made new serological tests of the patient and the results have shown that the patient was most likely infected by CMV primarily in the first trimester of pregnancy. After consulting about the risk of transmission of CMV to the fetus, the woman chose monthly ultrasound scans and refused amniocentesis. At 36 weeks gestation, in addition to the microcephaly already established, enlargement of the IV brain ventricle at the expense of underdevelopment of the cerebellum was noticed. Also, 2nd to 3rd stage of placenta maturity and low quantity of amniotic fluid was established. A male fetus of weight 2,890 g and height 50 cm was delivered.Â Â The fetus was with skin petechiae and hepatosplenomegaly. Neurological examination showed no abnormalities.CONCLUSIONS: In the described case the time interval between infection and ultrasonic manifestations is more than 17 weeks. The long interval between infection and occurrence of ultrasound markers can be a good prediction sign, as it may reflect less aggressive viral infection than present in cases where similar ultrasound findings were obtained shortly after infection of the mother.

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Fetal nuchal translucency: ultrasound screening for fetal trisomy in the first trimester of pregnancy

BJOG An International Journal of Obstetrics & Gynaecology ◽

10.1111/j.1471-0528.1995.tb11445.x ◽

1995 ◽

Vol 102 (9) ◽

pp. 758-758

Author(s):

H. K. S. Hinshaw

Keyword(s):

First Trimester ◽

Nuchal Translucency ◽

Ultrasound Screening ◽

First Trimester Of Pregnancy

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Is MSAFP Still a Useful Test for Detecting Open Neural Tube Defects and Ventral Wall Defects in the Era of First-Trimester and Early Second-Trimester Fetal Anatomical Ultrasounds?

Fetal Diagnosis and Therapy ◽

10.1159/000363654 ◽

2014 ◽

Vol 37 (3) ◽

pp. 206-210 ◽

Cited By ~ 6

Author(s):

Ashley S. Roman ◽

Simi Gupta ◽

Nathan S. Fox ◽

Daniel Saltzman ◽

Chad K. Klauser ◽

...

Keyword(s):

Neural Tube ◽

Neural Tube Defects ◽

Gestational Age ◽

First Trimester ◽

Nuchal Translucency ◽

Maternal Serum ◽

Fisher Exact Test ◽

Ultrasound Screening ◽

Second Trimester ◽

Ventral Wall

Introduction: To evaluate whether maternal serum α-fetoprotein (MSAFP) improves the detection rate for open neural tube defects (ONTDs) and ventral wall defects (VWD) in patients undergoing first-trimester and early second-trimester fetal anatomical survey. Material and Methods: A cohort of women undergoing screening between 2005 and 2012 was identified. All patients were offered an ultrasound at between 11 weeks and 13 weeks and 6 days of gestational age for nuchal translucency/fetal anatomy followed by an early second-trimester ultrasound at between 15 weeks and 17 weeks and 6 days of gestational age for fetal anatomy and MSAFP screening. All cases of ONTD and VWD were identified via query of billing and reporting software. Sensitivity and specificity for detection of ONTD/VWD were calculated, and groups were compared using the Fisher exact test, with p < 0.05 as significance. Results: A total of 23,790 women met the criteria for inclusion. Overall, 15 cases of ONTD and 17 cases of VWD were identified; 100% of cases were diagnosed by ultrasound prior to 18 weeks' gestation; none were diagnosed via MSAFP screening (p < 0.001). First-trimester and early second-trimester ultrasound had 100% sensitivity and 100% specificity for diagnosing ONTD/VWD. Discussion: Ultrasound for fetal anatomy during the first and early second trimester detected 100% of ONTD/VWD in our population. MSAFP is not useful as a screening tool for ONTD and VWD in the setting of this ultrasound screening protocol.

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Detection rate of fetal CNS anomalies by first and second trimester ultrasound screening

Journal of Contemporary Medical Sciences ◽

10.22317/jcms.v7i3.982 ◽

2021 ◽

Vol 7 (3) ◽

Keyword(s):

Pregnant Women ◽

Fetal Brain ◽

First Trimester ◽

Cross Sectional Study ◽

Radiology Department ◽

Ultrasound Screening ◽

Second Trimester ◽

Cross Sectional ◽

Recorded Data ◽

Cns Anomalies

Objectives: The aim of this study was to detect CNS abnormalities in the first and second trimester by ultrasound. Methods: This cross-sectional study was performed on pregnant women who referred to the radiology department of Imam Reza and Valiasr hospitals in Tehran-Iran during 2019-2020. After obtaining informed consent, pregnant women were screened in the first trimester at week 13-13 and then in the second trimester at week 18-20 by a 5-8 MHz Ultrasound Transducer. Each ultrasound included examination of the fetal brain and vertebrae at the axial coronal and sagittal planes in the most important anatomical areas, including the trans-thalamic (TT) or the trans-ventricular (TV) plane, transverse cerebellar, and vertebral canal plan. Ultrasound of the first and second trimesters of all mothers was performed. Information of all pregnant mothers was collected and recorded. Data analysis was performed using SPSS software version 25. Results: In this study, 2234 pregnant women were included in the study. The total rate of detected anomalies was found to be 1.3%. The rate of abnormalities detected in the first trimester was far less than in the second trimester. The prevalence of CNS anomalies in the population under 30 years of age was also found 0.9%, while it was 1.6% in the population over 30 years of age. Conclusion: Second-trimester ultrasound is the method of choice in diagnosing central nervous system abnormalities. However, first-trimester ultrasound is the diagnostic method for structural abnormalities of the skull.

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Fetal nuchal translucency: ultrasound screening for fetal trisomy in the first trimester of pregnancy

BJOG An International Journal of Obstetrics & Gynaecology ◽

10.1111/j.1471-0528.1995.tb11446.x ◽

1995 ◽

Vol 102 (9) ◽

pp. 758-759

Author(s):

Thomas E. J. Ind ◽

N. M. Fisk

Keyword(s):

First Trimester ◽

Nuchal Translucency ◽

Ultrasound Screening ◽

First Trimester Of Pregnancy

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Sonographic abnormalities in pregnancies conceived following IVF with and without preimplantation genetic testing for aneuploidy (PGT-A)

Journal of Assisted Reproduction and Genetics ◽

10.1007/s10815-021-02069-5 ◽

2021 ◽

Author(s):

Carrie K. Riestenberg ◽

Thalia Mok ◽

Jessica R. Ong ◽

Lawrence D. Platt ◽

Christina S. Han ◽

...

Keyword(s):

Genetic Testing ◽

Diagnostic Testing ◽

Prenatal Testing ◽

Nuchal Translucency ◽

Second Trimester ◽

Patient Counseling ◽

Fetal Anomalies ◽

Preimplantation Genetic Testing ◽

Ultrasound Findings ◽

Natural Conception

Abstract Purpose To report the rate of fetal anomalies detected on anatomy ultrasound in pregnant patients who underwent IVF with preimplantation genetic testing for aneuploidy (PGT-A) compared to patients who conceived following IVF with unscreened embryos and age-matched patients with natural conceptions. Methods Retrospective cohort study at a single maternal-fetal medicine practice. Patients with singleton pregnancies who had a mid-trimester anatomy ultrasound between January 2017 and December 2018 were screened for inclusion. A total of 712 patients who conceived after IVF with or without PGT-A were age-matched with natural conception controls. The primary outcome was the rate of fetal and placental anomalies detected on mid-trimester anatomical survey. Secondary outcomes included the rates of abnormal nuchal translucency (NT), second trimester serum analytes, non-invasive prenatal testing (NIPT), and invasive diagnostic testing. Result(s) There were no differences in the rate of fetal anomalies in patients who underwent IVF with PGT-A compared to patients who conceived following IVF with unscreened embryos and age-matched patients with natural conceptions. Rate of abnormal NT, high-risk NIPT, and abnormal invasive diagnostic testing were also similar. Patients who conceived after IVF with or without PGT-A had higher rates of abnormal placental ultrasound findings and abnormal second trimester serum analytes compared to natural conception controls. Conclusion The use of PGT-A was not associated with a difference in risk of fetal anomaly detection on a mid-trimester anatomical survey. The results of this study highlight the importance of improved patient counseling regarding the limitations of PGT-A, and of providing standard prenatal care for pregnancies conceived through ART, regardless of whether PGT-A was performed.

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