Screening for fetal congenital heart disease

Pham, Alice; Melchior, Mary

doi:10.1503/cmaj.160700

Cited by 5 publications

(4 citation statements)

References 4 publications

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“…Our findings also indicated that the AFP level could be considered as a proper biomarker for CHD screening. A few studies have evaluated the value of screening tests in the second trimester and their association with CHD (21)(22)(23). The results of our study indicate the value of maternal AFP level in the second trimester as a screening test to predict the incidence of CHD.…”

Section: Discussionmentioning

confidence: 50%

Evaluation of Second-Trimester Maternal Serum AFP Value in the Detection of Congenital Heart Defects

Aghaamoo

Lotfi

Mirmohammadkhani

et al. 2021

Middle East J Rehabil Health Stud

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Background: Congenital heart diseases, as the most common congenital anomaly, are a major cause of serious morbidity and mortality. Objectives: This study aimed to evaluate the level of alpha-fetoprotein in the second trimester of pregnancy and its association with congenital heart defects. Methods: Following a cross-sectional design, singleton pregnant women in the second-trimester were enrolled for the α-fetoprotein (AFP) screening test. Those with normal screening results at the first and second tests were assigned to the control group. Mothers with nuchal translucency (NT) screening equal or greater than 3% of the 99th percentile, without chromosomal anomalies, confirmed with amniocentesis, were referred for a fetal echocardiogram and in presence of congenital heart defects symptoms, assigned to the intervention group. The study groups were compared concerning the serum AFP level and maternal and neonatal outcomes in the second trimester of pregnancy. Statistical significance was considered when P-value < 0.05. Results: A total of 270 women were enrolled in the study, with a mean AFP level of 1.868 ± 0.87 and 1.374 ± 0.39 in the case and control groups, respectively. The mean level of AFP was significantly different between the two groups (P < 0.001). In the second trimester, an AFP level lower than 1 was associated with a significant increase in the likelihood of developing congenital heart anomalies in the fetus. Conclusions: This study demonstrated that the value of maternal AFP level in the second trimester can be considered as an appropriate screening test to predict the incidence of congenital heart defects in neonates.

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Section: Discussionmentioning

confidence: 50%

Evaluation of Second-Trimester Maternal Serum AFP Value in the Detection of Congenital Heart Defects

Aghaamoo

Lotfi

Mirmohammadkhani

et al. 2021

Middle East J Rehabil Health Stud

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“…Biasanya pada fase ini akan dilakukan pemeriksaan translusensi nuchal, billa angkanya melebihi persentil 95 atau ≥ 3.5 mm, maka pasien perlu pemeriksaan lanjutan berupa fetal echocardiography. 7 Fetal echocardiography merupakan pemeriksaan ultrasonografi yang dilakukan pada ibu hamil yang secara spesifik berusaha melihat kondisi struktur jantung janin. Idealnya, pemeriksaan ini dilakukan ketika janin berusia 18-20 minggu kehamilan ketika jantung sudah terbentuk sempurna.…”

Section: Skrining Prenatalunclassified

“…Idealnya, pemeriksaan ini dilakukan ketika janin berusia 18-20 minggu kehamilan ketika jantung sudah terbentuk sempurna. 7 Namun, tidak semua kehamilan memerlukan pemeriksaan fetal echocardiography, beberapa indikasi ibu yang janinnya memerlukan pemeriksaan fetal echocardiography adalah: terdapat riwayat penyakit jantung bawaan di keluarga, ibu yang mengandung memiliki diabetes, paparan terhadap obat-obatan teratogenik, penyakit gangguan kolagen pada ibu (Ehler-Danlos jantung dapat terdeteksi sehingga persiapan kelahiran bayi pun dapat dilakukan dengan ekstra hati-hati dan dilakukan di fasilitas kesehatan yang mumpuni. 7,8…”

Section: Skrining Prenatalunclassified

Pentingnya Mendeteksi Penyakit Jantung Bawaan Lebih Dini: Skrining Fase Prenatal dan Postnatal

Putra

Prakoso

2022

J Indon Med Assoc

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Penyakit Jantung Bawaan: Seberapa Sering dan Apa Implikasinya?Penyakit jantung bawaan (PJB) dapat ditemukan pada 1% dari keseluruhan kehamilan per tahunnya. Artinya, dari 100 bayi akan ada 1 bayi yang mengalami PJB.1 Data terbaru dari Global Burden of Disease Study 2017 bahkan menunjukkan prevalensinya mencapai 1.6 - 1.7% untuk wilayah Asia Tenggara, termasuk Indonesia didalamnya.2 Di sisi lain, Indonesia memiliki laju pertumbuhan penduduk sebanyak 1.39% dengan per tahunnya lahir sebanyak 4.2-4.8 juta bayi.3 Dengan demikian, dapat diperkirakan bahwa jumlah pasien dengan PJB yang lahir di Indonesia adalah sebanyak 71.400 hingga 81.600 bayi per tahunnya.

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“…Although nuchal translucency does not perform well as a screening test for congenital heart disease, a nuchal translucency at 3 mm or 99th percentile is an accepted indication for fetal echocardiography [2,20,38,39]. The optimal time to assess the fetal heart is at 18 to 22 weeks of gestation; however, early echocardiography may be performed [20].…”

Section: Us Echocardiography Fetalmentioning

confidence: 99%

ACR Appropriateness Criteria® Nuchal Translucency Evaluation at 11 to 14 Weeks of Gestation

Gyn¹,

Imaging

Simpson

et al. 2020

Journal of the American College of Radiology

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A fetus with an increased nuchal translucency at 11 to 14 weeks gestation is at risk for aneuploidy, genetic syndromes, structural anomalies, and intrauterine fetal demise in both single and twin gestations. In addition to referral to genetics for counseling and consideration of diagnostic genetic testing, a detailed anatomic survey and fetal echocardiogram are indicated in the second trimester to screen for congenital malformations and major heart defects.The American College of Radiology Appropriateness Criteria are evidence-based guidelines for specific clinical conditions that are reviewed annually by a multidisciplinary expert panel. The guideline development and revision include an extensive analysis of current medical literature from peer reviewed journals and the application of well-established methodologies (RAND/UCLA Appropriateness Method and Grading of Recommendations Assessment, Development, and Evaluation or GRADE) to rate the appropriateness of imaging and treatment procedures for specific clinical scenarios. In those instances where evidence is lacking or equivocal, expert opinion may supplement the available evidence to recommend imaging or treatment.

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Screening for fetal congenital heart disease

Cited by 5 publications

References 4 publications

Evaluation of Second-Trimester Maternal Serum AFP Value in the Detection of Congenital Heart Defects

Evaluation of Second-Trimester Maternal Serum AFP Value in the Detection of Congenital Heart Defects

Pentingnya Mendeteksi Penyakit Jantung Bawaan Lebih Dini: Skrining Fase Prenatal dan Postnatal

ACR Appropriateness Criteria® Nuchal Translucency Evaluation at 11 to 14 Weeks of Gestation

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