Sometimes sacral agenesis/caudal regression syndrome (SA/CRS) is diagnosed during pregnancy during a prenatal ultrasound examination. Of course, this experience is frightening for most parents. We have collected the stories of parents who have been through this experience here. Also summarized below are research articles that describe potential indicators seen in some fetal ultrasounds that may point to SA/CRS or other conditions of the spine.
Research About Ultrasound Indicators
Researchers S. K. Singh, R. D. Singh, and A. Sharma (2005) produced a case study and literature review on SA/CRS. M. Boulas, in a journal article titled “Recognition of caudal regression syndrome” (2009), suggested a number of prenatal ultrasound features that may indicate SA/CRS. This information was compiled by a group of researchers in The Netherlands in an article in 2016 (F. Fontanella et al). Although the 2016 article is relatively recent, keep in mind that the list is based on small number of case studies from the 2005 and 2009 reports. It is nevertheless a listing of ultrasound characteristics that doctors might use to alert them to the possibility of SA/CRS (as well as to a number of other conditions with the same early indicators). Not all of the features or conditions listed are directly related to SA/CRS, and not all of these issues would be present in a single fetus.
Broad Indicators During the First Trimester
- Abnormal appearance of the yolk sac
- Shorter crown-rump length than expected for gestational age
- Increased nuchal translucency
- Sacral agenesis (absence of the lower spine)
Second and Third Trimesters
In the second and third trimesters, increasingly more specific indicators may be present:
Spine
- Partial or complete absence of the sacrum and sacral vertebrae or lower spine
- Scoliosis and kyphosis
- Abnormal vertebral ossification
- Decreased interspace between femoral heads
Limbs
- Clubfeet
- Flexion contractures of the lower extremities
- Syndactyly or polydactyly (may be present in addition to absence of the spine
Central Nervous System
- Spina bifida: meningocele or myelomeningocele (may be present in addition to absence of spine)
- Hydrocephaly (may be present in addition to absence of spine)
- Microcephaly, anencephaly or holoprosencephaly (may be present in addition to absence of spine)
Face (independent of SA/CRS but may be present in addition to the condition of SA/CRS)
- Pierre Robin syndrome
- Facial clefts
Cardiac (issues may be present in addition to absence of the spine)
- Ventricular septal defect
- Transposition of great vessels
- Dextrocardia
- Coarticulation of the aorta
Genitourinary Tract (may be present in addition to absence of the spine)
- Renal agenesis or renal dysplasia
- Hydronephrosis
- Dilated or ectopic ureters
- Ambiguous genitalia hypospadias
- Vesical or cloacal exstrophy
- Absent bladder
- Enlarged and thick walled bladder
Gastrointestinal Tract) (may be present in addition to absence of the spine)
- Abdominal wall defect
Making Difficult Decisions
Reading a list like this can be overwhelming. Keep in mind that no single child presents with all of these conditions. These are indicators that doctors use to further explore potential diagnosis of many different conditions, not just SA/CRS. Very often an option suggested to parents is abortion. Sometimes parents base these decisions on a worst-case scenario that a doctor may provide. Sometimes the doctors has no actual experience with the condition. It is important to keep in mind that doctors usually cannot predict the exact outcome of this diagnosis nor a child’s potential. The experiences of a majority of families is that their children far surpass the predictions made by medical professionals, and these same children enrich the lives of families beyond measure. Read some of our stories below.
Jacob’s Video Story
Transcript of Jacob’s Video Story
Iman’s Story (English)
Iman’s Story (Arabic)