Initial assessments of the MMC population regarding sexual function were fundamentally focused on neuroanatomy and loss of sensory capabilities [3–6]. Recapitulating the societal bias driving abundant research in normal male versus female sexual function, a similar differential emphasis appears regarding studies in MMC females. Even as the field of normal female sexual dysfunction evolves, are analogous outcome measures such as desire, lubrication, and orgasm directly adaptable in the MMC population?

Vertebral column abnormalities may manifest in an array of sensory and motor deficits and resultant sexual dysfunctions theoretically correlate to the level of the spinal defect [3, 6]. In general, patients with MMC can be divided into three groups defined by motor level: (1) lesions at or above L2 (essentially all wheelchair bound patients); (2) lesions between L3 and L5 (patients may ambulate with braces/aids/surgical procedures); and (3) lesions at or below S1. Still, since the defect in the developmental pathway is unique in every patient, the ultimate sensory and motor manifestations, as well as cognitive and emotional development relating to sexual function, must be assessed individually. Females with MMC most frequently display normal genital and reproductive anatomy, but may be short for their age, wheelchair bound, and restricted by muscular deformities such as kyphoscoliosis [5].

However variable the manifestations of MMC lesion level, commonly patients with deficits at or below S1 display minimal neurologic defects and may display near normal sexual function [4]. However, some authors have suggested that even for higher level lesions, clinical experience reveals the absence of genital sensation does not preclude sexual satisfaction and therefore alternative sensory pathways may dominate [5]. One important consideration occurs in patients with autonomic dysreflexia as orgasm may result in painful contractions or incontinence depending on the level of bladder filling [7]. Additionally, lack of vascular engorgement in MMC patients due to defects in the parasympathetic pathway may predispose to issues with vaginal secretions during intercourse which would benefit from usage of soluble lubricants.

An often inconspicuous factor which the practitioner is obligated to address revolves around the psychosocial impairments frequently existent in the MMC population [8]. The process of normal adolescent development and sexual maturation may be exceedingly complex in this population due to a variety of factors. Socialization with peers, a dominant factor in the development of successful sexual relationships, may be a particular hardship for many female patients with MMC [8]. Interestingly, lesion level does not appear to affect the ability of the MMC patient to form relationships [9]. Prominent risk factors contributing to characteristic delayed social development may include actual cognitive handicap, poor manual dexterity, lack of educational opportunities regarding psychosexual issues, and a dominant parental influence [5]. Due to the intricacies of the caretaker/parent relationship that may have evolved with the disabled patient, there appears to be a discernible absence of the normal adolescent–parent conflict in MMC patients [10]. This conflict is essential to developmentally shift the adolescent away from the parent-centered to the peer-centered relationship. Factors that promote defiance during young adulthood may be magnified for MMC adolescents and negatively impact patient compliance.

Concerns of fertility and sexuality may arise prior to the capacity to transition to an adult provider. Indeed, the female MMC patient is prone to precocious puberty with many patients undergoing menarche at as early as ages 6–9 [5, 11]. The comorbid deficits in the hypothalamic–pituitary–gonadal axis, particularly in individuals with hydrocephalus are understood to contribute to development of premature sexual characteristics which the family and patient are often poorly prepared to address [12]. Mobility impairments may produce difficulties with hygiene, further impacting evolving body image concerns [13]. Delayed psychosocial development, impaired executive function teamed with premature physiological development leads to even more widening of the gulf between physiological readiness and psychological readiness with respect to sexual function. Patient education, including the use of latex-free barrier contraception, remains an important role of the urological health care provider in minimizing risk during this vulnerable period.

After preservation of renal function, continence remains a primary goal for management of both the pediatric and adult MMC patient. Continence becomes an increasing social issue with aging and the development of a woman’s sexual identity. Numerous studies have underscored this relationship demonstrating a principal barrier to development of intimate relationships for the MMC population is concern for incontinence [2, 14]. Additional questionnaire-based evaluations have confirmed that a key predictor for the MMC patient’s capacity to find a partner and engage in sexual activity was lesion level, favoring those with lower lesions [9]. One critical influence in assessing predictors of sexual partnering was the presence of hydrocephalus which appears to significantly diminish socialization capacity and associated sexual functioning [15].

Of key concern for the transition practitioner involves building expectations with the individual MMC patient, creating an environment of independence, and promoting patient self-management and confidence. Discussion of sexual development topics are certain to be complex, particularly in situations of high-level parental involvement, but must be accommodated to appropriately propel transition to adult-centered care for this vulnerable population.

Contemporary studies investigating levels of sex education and exploring desires for partnering and pregnancy in women with MMC have revealed the majority of young adults with MMC have had sexual experiences and have similar desires with regard to relationships, sexuality, and pregnancy as their normative counterparts [15–17]. In a questionnaire-based survey of MMC patients and their parents, 95 % of patients indicated inadequate knowledge about sexual and reproductive health relating to MMC and 59 % of parents considered they had inadequate knowledge [2]. Not surprisingly for a population primarily managed by pediatric specialists, only 39 % of patients had discussed sexuality issues including fertility, heredity, pregnancy, and contraception with a physician. In an Italian population of almost 300 MMC patients, alarmingly only 5 % of female patients actually discussed sexuality with a health care provider [9].

Not surprisingly, 93 % of MMC adolescents and 100 % of parents reported they would categorically discuss reproductive issues if the dialogue was initiated by their doctor. Although somewhat lower than age-matched controls, a significant degree of sexual intimacy was reported for MMC patients, with 60 % reporting an intimate relationship, and 25 % reporting sexual intercourse [2].

Overall, increasing awareness must squarely rest on the treating practitioner and discussion of sexual and reproductive subjects should be integrated into patient counseling. Nearly, all reports in the literature demonstrate a discrepancy between sexual desire and activity in the MMC population demonstrating that many patients may enjoy dramatic quality of life enhancement when appropriately counseled.

Pediatric urologists are intimately familiar with the incidence and risks of latex allergies in the MMC population which have been estimated to approach an incidence of 60 % [18]. Although most urologists and obstetrician/gynecologists may be accustomed with and prepared for the intraoperative consequences of a latex allergic reaction, special considerations may be necessary when counseling patients regarding sexuality and birth control [19]. Primarily, patients must be cognizant to utilize latex-free condoms, sexual aids, and intrauterine devices [20]. Of additional concern with intrauterine devices is the potential amplified risk for pelvic infection. For the immobile patient, use of estrogen/progestin contraceptives may also escalate risk for thrombotic events [21–23].

Preconception counseling is strongly encouraged when the opportunity exists and the pregnancy is planned. Involvement of a multidisciplinary team with high-risk obstetrics, reconstructive urology, anesthesiology, orthopedics, and neurosurgery should be considered for consensus decision-making for the MMC female desiring pregnancy. Provision for social work counseling may furthermore be valuable. Genetic components of neural tube defects must be clearly delineated for MMC patients desiring conception. Risk of transmission to offspring if one parent is afflicted with MMC is variably quoted at 1–8 % [24–26]. The threat is identical if the affected parent is male or female; however, the incidence in female offspring is 1 in 13 and diminishes to 1 in 50 for male children. However, if both parents are affected, the neural tube defect transmission rate increases dramatically to 15 %.

Since polymorphisms in the folic acid metabolism pathway are considered primary deficits in the development of neural tube defects, promotion of folic acid supplementation for women desiring pregnancy is of critical importance [27]. By the early 1990s, a substantial public health effort was initiated in the United States through the collaboration of the Centers for Disease Control, Health Services Administration, Food and Drug Administration, and the National Institutes of Health [28]. This program involved a three-stage approach for the prevention of neural tube defects: (1) dietary supplementation of 0.4 mg of folic acid for low-risk women and 4 mg of folic acid for high-risk women of childbearing age; (2) improvements in dietary habits; and (3) fortification of the US food supply. Notably, compared to routine supplementation of women without MMC of 0.4 mg folic acid per day, doses of 4–5 mg per day have been advocated for the MMC patient desirous of fertility [5, 28]. Prophylaxis is currently recommended with folic acid supplementation for 3 months prior to pregnancy and continuing through week 12. Despite this regime, there remains a risk for development of MMC due to inborn errors of metabolism or discrepancies in the absorption of folic acid products [29]. Additional genetic, dietary and epigenetic alterations responsible for these continued hazards for development of neural tube defects are topics of vigorous current research initiatives in the post-folate supplementation era.

Monitoring and counseling of progeny for neural tube defects should be employed and tailored to the individual desires of the parents [30]. Prenatal diagnosis of neural tube defects has been incorporated into routine prenatal care via screening. Screening prior to 20 weeks is now standard with the use of serum testing, high resolution ultrasound and chorionic villous sampling, providing earlier diagnosis and greater opportunities for elective termination if the parent(s) desire that option. Fetal magnetic resonance imaging (MRI) may also serve as an adjunct imaging modality with ultrasound to improve prognostic prediction.

In general, females with MMC are considered to have normal fertility with up to 70 % of those who conceive having successful pregnancies [19]. However, as discussed in further detail below, the gravid uterus may impact already tenuous balance and ambulation issues, ventriculoperitoneal (VP) shunt drainage, bowel and bladder function, urinary diversion function, skin integrity, pulmonary function, cardiac function, and foremost, urinary infection risk.

For patients who have previously undergone extensive pelvic surgery, experienced authors have suggested that visceral adhesions may negatively affect fertility due to uterine retroflexion and concomitant issues with conception and implantation [31].

Each woman with MMC presents a unique challenge for the practitioner. The myriad considerations include the patient age, underlying comorbid disease, genetic implications for the offspring, pelvic bony and muscular anatomy, obesity, urinary diversion status, prior abdominal surgeries, renal function, presentation of the fetus, and even considerations for care of the infant. Appreciation of these physiologic, anatomic, and social considerations should guide the physician to optimize organization of multidisciplinary care for these women.

With regard to urinary diversion, pregnancies for MMC patients most often follow reconstruction by many years. Initial goals of urinary reconstruction for the MMC patient were likely initially aimed at protection of renal function and social continence with few considerations for eventual pregnancy. Although each reconstruction presents unique challenge, some concepts may be broadly applied for the MMC patient. Foremost is recognition that the greatest risk factor for worsening renal function in pregnant women with or without urinary reconstruction is preexisting renal insufficiency [32]. Significant pregnancy-related loss of maternal renal function along with development of new onset hypertension has been demonstrated, increasing the complication rates of preterm delivery and growth retardation [33, 34]. Superimposed on the issues of renal function is the recognition that many of this MMC population may have a solitary kidney due to congenital absence or loss from dysfunction [31]. It is critical to initiate assessment with a measurement of a non-creatinine-based estimate of glomerular filtration rate (GFR) as opposed to creatinine-based methods, as altered body habitus (atrophied lower extremities) and lower creatinine generation (nonambulatory) results in creatinine-based methods substantially overestimating GFR.

Combined with the increased risks for development of urolithiasis demonstrated for patients with urinary diversion are the complexities of the physiologic and anatomic changes which accompany pregnancy. Risk for both upper and lower urinary tract calculi in patients with bladder augmentation have been variably estimated from 9 % to as high as 50 % [35]. Although some hazard may be attributed to anatomic parameters such as incomplete emptying of continent reservoirs or native bladders, additional contributing factors include chronic bacteriuria, intravesical foreign bodies, mucus secretion, metabolic acidosis, enteric hyperoxalura, as well as the typical dietary culprits [36, 37]. Physiologic and anatomic changes which occur with pregnancy may exacerbate the complexities of the MMC predisposition for calculi. Notably, the extrinsic obstruction of the ureter by the gravid uterus against the pelvic brim may certainly exacerbate preexisting hydronephrosis and urinary stasis, potentially predisposing to worsening renal function or urinary infection in this vulnerable population. This hydronephrosis of pregnancy tends to worsen during weeks 20–28 of gestation requiring increased vigilance of monitoring during this period [38].

Fortunately, due to the protective effects of increased secretion of several inhibitors of urinary stone formation such as citrate, magnesium, and glycosoaminoglycans, even patients with a known history of stone disease do not experience an increased rate of urolithiasis during pregnancy [39]. However, management of the MMC patient with altered body habitus and potential urinary diversion status at baseline necessitates high levels of awareness and expertise with modes of diagnosis and management if development of clinically significant stones manifest during pregnancy. Of particular concern in this population is the altered sensory capacity to recognize upper tract obstruction which may delay care until sepsis and acute renal failure present, which may endanger the pregnancy.

There is little guidance with regard to the presence of a retained bladder for those patients with diversion without concomitant cystectomy. Some authors suggest that concerns involving a retained nonfunctional bladder, such as pyocystis, may unfortunately only become overt during pregnancy [31]. Optimal drainage of the native bladder with a patent urethra may be achieved during the acute phase with catheter drainage; however, this option will need to be individualized for each patient’s clinical situation.

Notable matters in addition to hydronephrosis which may manifest during the MMC pregnancy include compromise of vascular perfusion of the diversion bowel segment, intestinal obstruction, stenosis or prolapse of a urostomy, compression of catheterizable channels, as well as metabolic complications [31]. Of particular interest in patients with ureterosigmoidostomy is the possibility of mechanical deformation of the sigmoid or ureteral anastomoses, potentially resulting in disruption of the ureteral implants or incomplete emptying. Notably, rectal sphincter function necessary for appropriate function of the ureterosigmoidostomy may be compromised by vaginal delivery, leading to de novo urinary and potentially fecal incontinence [31].