Diagnosis During Pregnancy: Experiences and Research

Sometimes sacral agenesis/caudal regression syndrome (SA/CRS) is diagnosed during pregnancy during a prenatal ultrasound.  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 which may point to SA/CRS or other conditions of the spine.

Jacob’s Video Story

Transcript of Jacob’s Video Story

Read More Stories

Harrison’s Story

Iman’s Story (English)
Iman’s Story (Arabic)

Journey’s Story

James’ Story 

Natali’s Story

Allyson’s Story

A Grandparent’s Perspective

Research about ultra-sound 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 “Recognition of caudal regression syndrome” (2009), suggested a number of prenatal ultrasound features which 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 CRL than expected for the gestational age

Increased nuchal translucency

Sacral agenesis (absence of the lower spine)

In the second and third trimester increasingly more specific indicators may be present:

Partial or complete absence of the sacrum and sacral vertebrae/lower spine

Scoliosis and kyphosis

Abnormal vertebral ossification

Decreased interspace between femoral heads



Flexion contractures of the lower extremities

Syndactyly/polydactyly  (may be present in addition to absence of spine)

CNS: (Central Nervous System)

Spina bifida, meningeocele or myelomeningocele (may be present in addition to absence of spine)

Hydromcephaly (may be present in addition to absence of spine)

Microcephaly, ancecephaly or holoprosencephally (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 spine)

Ventricular septal defect

Transposition of great vessels


Coarticulation of the aorta

GU TRACT (Genitourinary tract) (may be present in addition to absence of spine)

Renal agenesis or renal dysplasia


Dilated/ectopic ureters

Ambiguous genetalia hypospadias

Vesical/cloacal exstrophy

Absent bladder

Enlarged and thick walled bladder

GI TRACT (Gastrointestinal tract) (may be present in addition to absence of 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.