Major fetal anomalies for which diagnostic and therapeutic techniques are available

What are the major fetal anomalies for which diagnostic and therapeutic techniques are available?

Fetal ultrasound evaluation for anomalies is very extensive. Any anomaly that results in anatomic and some physiologic derangements can be evaluated by US. These evaluations typically start with the detailed extended obstetric ultrasound examination and with specific imaging and measurements added for the anomaly and planned intervention. While the number of conditions treated by fetal surgical and interventional techniques is growing, the ones that have established therapies include:

  • • Spina bifida.
  • • Lung masses including congenital pulmonary airway malformation (CPAM) (known as congenital cystic adenomatoid malformation [CCAM]), bronchopulmonary sequestration (BPS), and congenital lobar emphysema (CLE).
  • • Pleural effusion.
  • • Congenital high airway obstruction syndrome (CHAOS).
  • • Congenital diaphragmatic hernia (CDH).
  • • Fetal neck masses.
  • • Sacrococcygeal teratoma (SCT).
  • • Bladder outlet obstruction (lower urinary tract obstruction [LUTO]).
  • • Twin abnormalities including twin to twin transfusion syndrome (TTTS); selective intrauterine growth restriction (sIUGR); twin anemia-polycythemia sequence (TAPS); twin reversed arterial perfusion (TRAP) syndrome; and conjoined twins.

Therapy for these conditions takes advantage of state-of-the-art surgical and interventional techniques. US and magnetic resonance imaging (MRI) are used routinely to help make specific diagnoses and plan for treatment. For all US performed for a fetal anomaly, if one is found, the fetal anatomic survey is done to exclude other anomalies as it is not unusual for a fetus to have more than one abnormality. This is also true if an anomaly is detected during an otherwise routine ultrasound study.


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