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Page 4 of 7  Original Research


              TABLE 1: Birth statistics and incidence of neural tube defects in the Free State
              province from 2012 to 2016.                                         1        1. Anencephaly (13%)
              Year  Number of births   Number of NTDs  Incidence per 1000 births     2     2. Anencephaly and Encephalocoele (1.3%)
              2012     43 787         10            0.23                              3    3. Encephalocoele (9.1%)
                                                                                           4. Encephalocoele and Open Spina Bifida (2.6%)
              2013     44 464         19            0.43                                   5. Spina Bifida Occulta (2.6%)
              2014     48 606         19            0.39                               4   6. Open Spina Bifida (71.4%)
              2015     45 982         15            0.33                              5
              2016     40 549         14            0.35
              Total    223 388        77            0.34
              NTD, neural tube defect.                                      6

              33 cases born at these hospitals. The incidence for NTDs was   FIGURE 3: Distribution of types of neural tube defects (NTDs).
              1.21/1000 births for babies born in PH and UH, which
              represents the metropolitan areas of the FS. The relative risk of    1      1. Syndromes or Congenital Abnormali es (16.9%)
              an NTD from 2012 to 2016 in comparison to the Sayed et al.   3              2. NTD Sequence (55.8%)
              study is 1.18 (95% CI 0.52–2.68, p = 0.69). There is no significant         3. No other abnormali es (27.3%)
              increase.

              The demographics of the NTD cases revealed a male: female
              ratio of 1:1 with the gender known in 68 (88.3%).

              Fifteen of the cases were firstborn (15; 22.4%), 20 were second-
              born (29.9%) and 15 third-born (22.4%). The birth order was     2
              known in 67 (87.0%).                                  FIGURE 4: Associated congenital abnormalities.

              Sixty-two (62; 80.5%) of the NTD cases were live births and 15
              (19.5%) were late terminations or stillbirths.                      1           1. Adam Complex (7.7%)
                                                                                      2       2. Beckwidth Wiedemann syndrome (7.7%)
                                                                     9                        3. Congenital Syphilis (7.7%)
              All the different types of NTDs were  represented in                            4. Dandy Walker Syndrome (7.7%)
              these  cases. Open spina bifida (meningocoele or                           3    5. Foetal Alcohol Syndrome (7.7%)
              myelomeningocoele) was the most common at 71.4%, 2.6%                           6. Diaphragma c Hernia (7.7%)
                                                                                              7. Trisomy 13 (7.7%)
              had spina bifida occulta, 13% had anencephaly and 9.1% had                 4    8. Trisomy 18 (15.4%)
              an encephalocoele. Some babies were reported to have more                       9. VACTERL associa on (30.8%)
              than one NTD as identified by the examining doctor: 1.3%   8             5
              had both anencephaly and an encephalocoele, and 2.6% had             6
              both an encephalocoele and open spina bifida. See Figure 3.    7
                                                                    FIGURE 5: Specific syndromes or patterns of congenital abnormalities.
              Other  congenital  defects  were  identified  in  addition  to  the
              NTD in many cases. These were classified as part of the NTD   on anti-epileptic treatment, all used valproate. The epilepsy
              sequence (found in 55.8% of cases) or part of other syndromes   history of 67 (87.0%) mothers was known. Twelve mothers
              and associations (found in 16.9% of cases). Open spina bifida   (15.6%) were exposed to other medications or toxins during
              is often associated with other central nervous system   their pregnancy including alcohol (n = 1), smoking (n = 1),
              anomalies, such as Chiari Type 2 malformation, hydrocephalus   antihypertensive  treatment  (n =  6),  penicillin  (n =  3)  and
              and club feet. These are considered as a sequence. Isolated   traditional medicine (n = 1). One mother was diagnosed with
              NTDs occurred in 27.3% of cases. See Figure 4.        diabetes mellitus during pregnancy.

              The other specific syndromes or patterns of congenital   The HIV data were captured for most mothers (94.8%). The
              abnormalities most frequently associated with NTDs were   prevalence of HIV-positive mothers in this study was 34.3%
              VACTERL association (30.8%) and Trisomy 18 (15.4%). See   (25/73). The 95% CI for the prevalence of HIV in this study
              Figure 5.                                             was 24.4% – 45.7%, which encapsulates both the FS and
                                                                    national prevalence. There is, therefore, no statistically
              The data collected from the maternal files were analysed to   significant difference in the HIV status of mothers who
              identify risk factors that might play a role in the development   delivered babies with NTDs and the general population. Of
              of NTDs. The maternal age showed a skewed distribution   the  mothers  who  were  living  with  HIV, most  were  taking
              with a median of 28.5 years. The maximum age was 43 years   antiretroviral drugs (ARVs) (n = 23), one mother was not on
              and the minimum was 16 years. The maternal age was known   ARVs during pregnancy and the treatment status of one
              in 76 cases (98.7%).                                  mother was unknown. See Figure 6.

              Teratogen exposure was known for 63 mothers (81.8%) and   Family history, including previous pregnancy outcomes, was
              15 (23.8%) were exposed to teratogens. Three mothers were   available for 34 cases (44.2%). One mother had a previous

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