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Journal Name Change

Vol. 1-4 (1986-1989) were published under the journal's former title Fetal Therapy.

Fetal Diagnosis and Therapy 2023, Vol. 50, No. 2

Review Article

Fetal Diagn Ther (2023) 50 (2): 61–69. https://doi.org/10.1159/000528692

Prenatal Diagnosis

Fetal Diagn Ther (2023) 50 (2): 70–83. https://doi.org/10.1159/000529821
Mini–Summary

What does this study add to current knowledge?

  • Ultrasonography (US) is the first-line imaging modality for the prenatal diagnosis of orofacial clefts. MRI has been shown to be relevant in addition to US to evaluate the type of cleft more precisely, particularly if the palate is involved. Apart from the type of cleft, the description of other cleft features is required by surgeons in order to improve prenatal counseling. To our knowledge, these features have never been highlighted in the prenatal literature.

What are the main clinical implications?

  • This study shows that most of these additional cleft features can be described with confidence by prenatal US, and others tend to be underestimated by prenatal assessment. This could have implications on prenatal counseling and the information given to the future parents. This study emphasizes the importance of collaboration between surgeons and US operators and supports the need for a standardized imaging report concerning the assessment of fetal orofacial clefts.

Fetal Diagn Ther (2023) 50 (2): 84–91. https://doi.org/10.1159/000529504
Established Facts

  • Primary microcephaly is known for its complex etiologies, including both environmental and genetic factors.

  • SASS6 is one of the rarest disease-causing genes of primary microcephaly.

Fetal Diagn Ther (2023) 50 (2): 92–97. https://doi.org/10.1159/000530643
Established Facts

  • Gómez-López-Hernández syndrome is a rare neurocutaneous disease characterized by the association of rhombencephalosynapsis with trigeminal anesthesia, alopecia, and facial dysmorphism.

  • A genetic etiology for this syndrome is postulated, although no recurrent chromosomal or genetic variants have been identified to date.

  • Postnatal framework to diagnose Gómez-López-Hernández syndrome is inappropriate for prenatal diagnosis.

Research Article

Fetal Diagn Ther (2023) 50 (2): 98–105. https://doi.org/10.1159/000530020
Mini-Summary

  • What does this study add to current knowledge?

Antenatal detection of coarctation of the aorta is challenging and associated with a high false positive and false negative rate. In this study, we compared the use of objective sonographic markers with subjective markers in the prenatal detection of neonatal coarctation of the aorta. We observed that the aortic and pulmonary valve ratio was the best performing marker. Our results also showed a trend toward an improvement in diagnostic performance when using objective markers overall.

What are the main clinical implications?

The use of objective cardiac measurements during fetal echocardiography may decrease false positive and false negative rates of coarctation of the aorta. This in turn may improve neonatal outcomes, allowing for better allocation of resources and parental bonding.

Fetal Therapy

Fetal Diagn Ther (2023) 50 (2): 106–114. https://doi.org/10.1159/000528815
Fetal Diagn Ther (2023) 50 (2): 115–120. https://doi.org/10.1159/000529334
Fetal Diagn Ther (2023) 50 (2): 121–127. https://doi.org/10.1159/000530155
Mini Summary

What does this study add to current knowledge?

  • Literature regarding outcomes of fetal reduction of monochorionic twin pregnancy via radiofrequency ablation when performed for elective indication versus medically indicated indications is limited. In this cohort, elective termination via radiofrequency ablation for multifetal pregnancy reduction was not associated with pregnancy loss.

What are the main clinical implications?

  • We demonstrate that pregnancy outcomes for radiofrequency ablation in monochorionic twins differ by the indication for the procedure, with the best outcomes observed when the procedure is performed for elective multifetal pregnancy reduction. Counseling regarding risks of procedure should include the indication for the procedure as outcomes may differ by clinical circumstance.

Fetal Diagn Ther (2023) 50 (2): 128–135. https://doi.org/10.1159/000530549
Mini-Summary

  • What does this study add to current knowledge?

    • Our study demonstrates that a <10% increase in observed-to-expected total lung volume (O/E TLV) after the FETO procedure is associated with lower infant survival to 12 months of age and higher ECMO requirement among infants with CDH.

  • What are the main clinical implications?

    • Among fetuses with CDH, estimation of the percentage increase in O/E TLV following the FETO procedure can be used to identify infants at increased risk for requiring ECMO and for death in the postnatal period.

Fetal Diagn Ther (2023) 50 (2): 136–142. https://doi.org/10.1159/000530261
Established Facts

  • New therapies with cystic fibrosis transmembrane conductance regulator (CFTR) modulators have been a critical advance in the management of cystic fibrosis (CF) because these drugs improve the function of the faulty CFTR protein rather than palliate its consequences. Benefits of CFTR modulator therapy are greater the sooner treatment is started.

  • Data according to the use of CFTR modulators during pregnancy are scarce. However, although approved CFTR modulators cross the placenta, no teratogenic effects have been reported at conventional doses, and no more pregnancy complications have been observed than those that would be expected in any pregnant patient with CF.

  • Only two cases of pregnant women taking CFTR modulator therapy with CF fetuses have been reported, suggesting that it could resolve meconium ileus prenatally and delay/prevent other consequences of CF.

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