Prænatal diagnostik af misdannelser i centralnervesystemet

Lisa Neerup Jensen; Bodil Helenius Hvingel; Christina Hjørnet Kamper; Pernille Nørgaard; Pernille Christina Martens; Mette Bendixen Thorup; Annika Reynberg Langkilde; Vibeke Andrée Larsen; Puk Sandager

doi:10.61409/V11240764

Prænatal diagnostik af misdannelser i centralnervesystemet

Lisa Neerup Jensen, Bodil Helenius Hvingel, Christina Hjørnet Kamper, Pernille Nørgaard, Pernille Christina Martens, Mette Bendixen Thorup, Annika Reynberg Langkilde, Vibeke Andrée Larsen, Puk Sandager^*

^*Corresponding author af dette arbejde

Abstract

Anomalies of the central nervous system (CNS) are some of the most common anomalies in the fetus. Severe neural tube defects can be detected by ultrasound in the 1st trimester. An accurate diagnosis at the prenatal ultrasound is essential for parents' prenatal counseling. Since the CNS develops throughout pregnancy, it is important to know the normal anatomy at different gestational ages. Fetal MRI is an important supplement to ultrasound for diagnostic accuracy. Genetic testing with microarray and whole genome sequencing can provide important information on the prognosis as argued in this review.

Bidragets oversatte titel	Prenatal diagnosis of anomalies in the central nervous system
Originalsprog	Dansk
Tidsskrift	Ugeskrift for Laeger
Vol/bind	187
Udgave nummer	18
ISSN	0041-5782
DOI	https://doi.org/10.61409/V11240764
Status	Udgivet - 28 apr. 2025

Emneord

Humans
Pregnancy
Female
Ultrasonography, Prenatal
Prenatal Diagnosis/methods
Magnetic Resonance Imaging
Neural Tube Defects/diagnostic imaging
Genetic Testing
Nervous System Malformations/diagnostic imaging

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10.61409/V11240764Licens: CC BY-NC-ND

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abstract = "Anomalies of the central nervous system (CNS) are some of the most common anomalies in the fetus. Severe neural tube defects can be detected by ultrasound in the 1st trimester. An accurate diagnosis at the prenatal ultrasound is essential for parents' prenatal counseling. Since the CNS develops throughout pregnancy, it is important to know the normal anatomy at different gestational ages. Fetal MRI is an important supplement to ultrasound for diagnostic accuracy. Genetic testing with microarray and whole genome sequencing can provide important information on the prognosis as argued in this review.",

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author = "Jensen, {Lisa Neerup} and Hvingel, {Bodil Helenius} and Kamper, {Christina Hj{\o}rnet} and Pernille N{\o}rgaard and Martens, {Pernille Christina} and Thorup, {Mette Bendixen} and Langkilde, {Annika Reynberg} and Larsen, {Vibeke Andr{\'e}e} and Puk Sandager",

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year = "2025",

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T1 - Prænatal diagnostik af misdannelser i centralnervesystemet

AU - Jensen, Lisa Neerup

AU - Hvingel, Bodil Helenius

AU - Kamper, Christina Hjørnet

AU - Nørgaard, Pernille

AU - Martens, Pernille Christina

AU - Thorup, Mette Bendixen

AU - Langkilde, Annika Reynberg

AU - Larsen, Vibeke Andrée

AU - Sandager, Puk

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PY - 2025/4/28

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N2 - Anomalies of the central nervous system (CNS) are some of the most common anomalies in the fetus. Severe neural tube defects can be detected by ultrasound in the 1st trimester. An accurate diagnosis at the prenatal ultrasound is essential for parents' prenatal counseling. Since the CNS develops throughout pregnancy, it is important to know the normal anatomy at different gestational ages. Fetal MRI is an important supplement to ultrasound for diagnostic accuracy. Genetic testing with microarray and whole genome sequencing can provide important information on the prognosis as argued in this review.

AB - Anomalies of the central nervous system (CNS) are some of the most common anomalies in the fetus. Severe neural tube defects can be detected by ultrasound in the 1st trimester. An accurate diagnosis at the prenatal ultrasound is essential for parents' prenatal counseling. Since the CNS develops throughout pregnancy, it is important to know the normal anatomy at different gestational ages. Fetal MRI is an important supplement to ultrasound for diagnostic accuracy. Genetic testing with microarray and whole genome sequencing can provide important information on the prognosis as argued in this review.

KW - Humans

KW - Pregnancy

KW - Female

KW - Ultrasonography, Prenatal

KW - Prenatal Diagnosis/methods

KW - Magnetic Resonance Imaging

KW - Neural Tube Defects/diagnostic imaging

KW - Genetic Testing

KW - Nervous System Malformations/diagnostic imaging

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U2 - 10.61409/V11240764

DO - 10.61409/V11240764

M3 - Review

C2 - 40358081

SN - 0041-5782

VL - 187

JO - Ugeskrift for Laeger

JF - Ugeskrift for Laeger

IS - 18

ER -

Prænatal diagnostik af misdannelser i centralnervesystemet

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