Prenatal ultrasound findings in Koolen‐de Vries foetuses: Central nervous system anomalies are frequent markers of this syndrome

ABSTRACT Prenatal diagnosis of central nervous system (CNS) congenital anomalies is possible in the second and third trimester. Earlier diagnosis is possible for some of these as the complex acranial/exencephaly/anencephaly and alobar holoprosencephaly (HPE). The knowledge of normal fetal brain development and its ultrasound images at the different weeks’ gestation, the expertise of operators, and high-resolution equipment are essential to obtain good results. The diagnosis in the first trimester of some major anomalies incompatible with extrauterine life or associated with severe handicap is useful to inform the couple, to perform additional examinations, and provide them with the option of earlier and safer pregnancy termination. For some other conditions, like agenesis of corpus callosum and hypoplasia or absence of cerebellar vermis, the diagnosis is possible only in the second trimester, so beware not to falsely reassure or scare expecting parents. In conclusion, first trimester ultrasound could be useful for early detection of some CNS anomalies, but caution could be used for others, particularly in counseling couples about prognostic significant of ultrasound findings. How to cite this article Viora E, Polarolo G, Bastonero S, Gullino E, Stillavato S, Sciarrone A. Central Nervous System Anomalies Detectable in the First Trimester. Donald School J Ultrasound Obstet Gynecol 2017;11(4):261-267.

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Retrospective Analysis of Pregnancy Terminations: 9-Years Experience at a Tertiary Hospital in Southeastern Turkey

Gynecology Obstetrics and Reproductive Medicine ◽

10.21613/gorm.2019.934 ◽

2019 ◽

pp. 1

Author(s):

Neslihan Bayramoglu Tepe ◽

Reyhan Gunduz ◽

Omer Faruk Dizibuyuk ◽

Huseyin Caglayan Ozcan ◽

Tanyeli Guneyligil Kazaz ◽

...

Keyword(s):

Central Nervous System ◽

Nervous System ◽

Folic Acid ◽

Risk Groups ◽

First Trimester ◽

Prenatal Ultrasound ◽

Termination Of Pregnancy ◽

Gestational Week ◽

Head Neck ◽

Central Nervous System Anomalies

Objective: To determine the indications for termination of pregnancy, and their consistency with autopsy data to offer an insight into termination of pregnancy having regard to conditions in Turkey.Study Design: Three hundred and ninety-one pregnancies terminated before the 24th gestational week were enrolled in this study. Maternal age, gravidity, parity, abortion, the status of folic acid usage, consanguineous marital status, gestational week, anomalies that led to termination and pathological diagnoses were recorded. Anomalies that led to termination were grouped as central nervous system , cardiovascular system, gastrointestinal system, genitourinary system, pulmonary, musculoskeletal, head-neck, chromosomal, genetic, multiple anomalies and others. Four groups were formed based on the consistency of prenatal ultrasound diagnosis with pathological diagnosis.Results: Mean age, gravidity, parity, abortion, and gestational week were 28 years, 3, 1, 1, and 15.7 weeks, respectively. One hundred and thirty-eight (35.2%) patients had consanguineous marriage. Three major causes of termination were central nervous system (45.78%), head-neck (17.4%) and multiple anomalies (14%). One hundred and twenty-eight (71.5%) patients with central nervous system anomalies were not using folic acid. Comparison of prenatal ultrasound findings with pathology results, 275 (70.3%) patients had full consistency, 46 (11.8%) had other findings at autopsy besides the confirmed sonographic findings, 34 (8.7%) had some sonographic findings not confirmed at autopsy, and 4 (1%) had no consistency between the findings.Conclusion: Central nervous system anomalies constitute the most common indication for termination of pregnancy in this retrospective study. Low rate of periconceptional folic acid among those cases is remarkable. First-trimester screening for earlier detection of fetal anomalies may be important in high-risk groups such as those with consanguineous marriages.

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Fetal Central Nervous System Anomalies According to RT-PCR and Trimester of Maternal Infection with ZIKV. A Prospective Study

SSRN Electronic Journal ◽

10.2139/ssrn.3745844 ◽

2020 ◽

Author(s):

Luz Ángela Gutiérrez-Sánchez ◽

Carlos Hernán Becerra-Mojica ◽

Mario Augusto Rojas ◽

Luis Alfonso Díaz-Martínez ◽

Luis Alfonso Pérez-Vera ◽

...

Keyword(s):

Central Nervous System ◽

Nervous System ◽

Prospective Study ◽

Maternal Infection ◽

Rt Pcr ◽

A Prospective Study ◽

Central Nervous System Anomalies

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The Spectrum of Congenital Central Nervous System Anomalies Among Stillborn: An Autopsy Based Study

Annals of Neurosciences ◽

10.1177/0972753121990169 ◽

2021 ◽

pp. 097275312199016

Author(s):

S. P. Vinutha ◽

D. Narayanappa ◽

G. V. Manjunath ◽

M. S. Sujatha ◽

M. C. Sapna Patel ◽

...

Keyword(s):

Central Nervous System ◽

Nervous System ◽

Congenital Anomalies ◽

Developmental Process ◽

Holistic Approach ◽

Fetal Autopsy ◽

Exact Test ◽

Medical College ◽

Ultrasound Findings ◽

Cns Anomalies

Background: Congenital central nervous system (CNS) anomalies are the structural or functional abnormalities of the brain and spinal cord that occur during the intrauterine developmental process. Purpose: The present study aims to detect the prevalence of congenital CNS anomalies among stillborn fetuses, the association between congenital anomalies and maternal factors, and also the association between autopsy and ultrasound findings. Methods: This study was conducted on 50 stillborn fetuses, obtained from the Department of Obstetrics and Gynecology at JSS Medical College and Hospital, Mysuru. The fetuses were fixed in 10% formalin and autopsies were performed as per the standard fetal autopsy protocol. The congenital CNS anomalies were studied in detail. Results: CNS anomalies were the most common congenital anomalies observed. Out of the total 50 stillborn fetuses studied, CNS anomalies were found in 17 fetuses and their occurrence was more common among male stillborn than females. Meningomyelocele was the most common anomaly, followed by anencephaly. The other anomalies documented were meningocele, encephalocele, meningoencephalocele, agenesis of the corpus callosum, craniorachischisis, bifid cerebellum with hypoplastic vermis, holoprosencephaly, and sirenomelia. Fisher’s exact test showed a significant association between maternal hypothyroidism and congenital CNS anomalies ( P < .05). The autopsy confirmed the ultrasound findings in 40 (80%) fetuses. There were significant additional findings observed in seven (14%) fetal autopsies and ultrasound diagnosis completely changed in three (6%) cases, after the final autopsy procedure. Conclusion: The fetal autopsy is the single most directly evident investigation, which gives information that changes or significantly improves the clinical diagnosis. A multidisciplinary holistic approach toward pregnancy will help to detect any kind of abnormality in the fetus and thus to take a timely decision toward the management.

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